Category Archives: Genetics

Genetics

What links our Siberian ancestors to a heightened risk of developing multiple sclerosis? – The Conversation

The genetic predisposition to suffering from multiple sclerosis (MS) is closely linked to historical migration patterns, and to our ancestors lifestyles. Specifically, MS is linked to the genetic contributions made by nomadic populations who reached Western Europe 5000 years ago from the Siberian Steppe.

Human genomes vary by 0.1%, and this difference is often the result of responses to environmental pressures. When faced with epidemic diseases, for instance, natural selection means the genetic variants that provide individual resistance to pathogens are the ones that survive. These markers are, in terms of population genetics, positively selected.

However, variants that are beneficial in one situation can be counterproductive in another. Immune systems the first line of defence against harmful viruses and bacteria tend to be involved in such a mismatch between genetics and environment.

In some cases, immune systems are unable to distinguish between the bodys own cells and external ones, leading them to destroy tissues. This is what causes autoimmune diseases such as rheumatoid arthritis, lupus or MS.

In the case of MS, the immune system attacks the insulating covers of nerve fibres in the brain and spinal cord. Until recently, the cause of MS was unknown, as were the causes of different distributions among the worlds population. However, new hypotheses have been proposed that may shine a light on these mysteries.

Two sources of information can help us understand when, where and how MS originated. The first is the diseases prevalence across continental Europe: there are higher concentrations of MS in the north and lower ones in the south. The second comes from palaeogenomics, the study of DNA recovered from ancient remains. Research in this field suggests that the European gene pool is made up of three major lineages.

Read more: Early humans reached northwest Europe 45,000 years ago, new research shows

The base of the European genome is linked to the first European settlers: hunter gatherers who arrived in Western Europe around 45,000 years ago. Later, between 8000 and 6000 years ago, Neolithic populations from Anatolia migrated into the region, mixing with the hunter gatherer genome. These groups were linked to the domestication of plants and animals.

To these two previous genomes we can add the Yamnaya migration. The Yamnaya was made up of pastoralist groups from the Siberian Pontic Steppes who dispersed across Eurasia in the Bronze Age around 5000 years ago.

Europeans are therefore a complex mixture in varying proportions of these three gene pools.

A recent study based on analysis of ancient DNA has found a direct relationship between the genetic risk of developing MS and an individuals proportion of Yamnaya ancestry. Like the incidence of MS, the Yamnaya genome is more prevalent in northern than southern Europe.

The contribution of these nomadic pastoralists to the European cultural and genetic ancestry had been overlooked by archaeologists until palaeogeneticists detected traces of them in Bronze Age populations.

They were hierarchical, patrilineal and patriarchal groups who introduced, among other innovations, the domestication of horses, the use of carriages, and Indo-European languages to Europe.

Read more: Indo-European languages: new study reconciles two dominant hypotheses about their origin

Their arrival in Western Europe also brought about the contribution of new genetic variants that had been selected to suit lifestyles based on pastoralism and animal husbandry.

Coexistence with cattle meant access to milk, an exceptional dietary source of energy. This in turn led to the selection of genetic variants that allowed adults to properly digest lactose.

Another interesting finding is the presence of certain pathogens such as the bacteria Yersina pestis, which causes the plague among the remains recovered from Siberian pastoral groups.

We can therefore explain the relationship between Yamnaya ancestry and MS, as contact with the pathogens carried by livestock caused the Yamnayas immune systems to adapt. They became hypersensitive to infections, which sometimes led their immune systems to confuse their own cells with those of others, resulting in the development of autoimmune diseases.

It is perhaps surprising to learn that some characteristics of modern day humans such as the ability to digest lactose as adults, resistance to infectious diseases, or the development of autoimmune diseases are inherited from a remote past that developed in the Pontic steppes. This discovery also has potential benefits in the field of medicine, such as in allocating healthcare resources to regions with a higher genetic predisposition to developing MS. This practical application would, however, require further, more focused research.

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What links our Siberian ancestors to a heightened risk of developing multiple sclerosis? - The Conversation

Genetics

Scientists Unveil the Genetic Blueprint of Blood Pressure – SciTechDaily

In a comprehensive study published in Nature Genetics, researchers identified over 100 new genomic loci that influence blood pressure, using data from more than a million participants. The findings, which also relate to iron metabolism and adrenergic receptors, could lead to novel treatments for hypertension. Credit: SciTechDaily.com

Over 100 new genomic regions linked to blood pressure were discovered, offering insights into iron metabolism and potential new drug targets for treating hypertension.

NIH-led study finds genetic markers that explain up to 12% of the differences between two peoples blood pressure.

National Institutes of Health (NIH) researchers and collaborators have discovered over 100 new regions of the human genome, also known as genomic loci, that appear to influence a persons blood pressure. Results of the study also point to several specific genomic loci that may be relevant to iron metabolism and a type of cellular receptor known as adrenergic receptors.

The study, published recently in the journal Nature Genetics, is one of the largest such genomic studies of blood pressure to date, including data from over 1 million participants and laying the groundwork for researchers to better understand how blood pressure is regulated. Such insights could point to potential new drug targets.

NIH-led study finds genetic markers that explain up to 12% of the differences between two peoples blood pressure. Credit: Darryl Leja, National Human Genome Research Institute

Our study helps explain a much larger proportion of the differences between two peoples blood pressure than was previously known, said Jacob Keaton, Ph.D., staff scientist in the Precision Health Informatics Section within the National Human Genome Research Institutes (NHGRI) Intramural Research Program and first author of the study. Our study found additional genomic locations that together explain a much larger part of the genetic differences in peoples blood pressure. Knowing a persons risk for developing hypertension could lead to tailored treatments, which are more likely to be effective.

To understand the genetics of blood pressure, the researchers combined four large datasets from genome-wide association studies of blood pressure and hypertension. After analyzing the data, they found over 2,000 genomic loci linked to blood pressure, including 113 new regions. Among the newly discovered genomic loci, several reside in genes that play a role in iron metabolism, confirming previous reports that high levels of accumulated iron can contribute to cardiovascular disease.

The researchers also confirmed the association between variants in the ADRA1A gene and blood pressure. ADRA1A encodes a type of cell receptor, called an adrenergic receptor, that is currently a target for blood pressure medication, suggesting that other genomic variants discovered in the study may also have the potential to be drug targets to alter blood pressure.

This study shows that these big genome-wide association studies have clinical relevance for finding new drug targets and are needed to discover more drug targets as we go forward, said Dr. Keaton.

From these analyses, the researchers were able to calculate a polygenic risk score, which combines the effects of all genomic variants together to predict blood pressure and risk for hypertension. These risk scores consider which genomic variants confer risk for hypertension and reveal clinically meaningful differences between peoples blood pressure.

Polygenic risk scores have potential to serve as a useful tool in precision medicine, but more diverse genomic data is needed for them to be applicable broadly in routine health care. While the collected data was mostly from people of European ancestry (due to limited availability of diverse datasets when the study was started), the researchers found that the polygenic risk scores were also applicable to people of African ancestry, which was confirmed through analyzing data from NIHs All of Us Research Program, a nationwide effort to build one of the largest biomedical data resources and accelerate research to improve human health.

Nearly half of adults in the United States have high blood pressure, known as hypertension. High blood pressure often runs in families, meaning that there is a genetic component to developing the condition in addition to environmental contributions such as a high-salt diet, lack of exercise, smoking, and stress. When blood pressure is consistently too high, it can damage the heart and blood vessels throughout the body, increasing a persons risk for heart disease, kidney disease, stroke, and other conditions.

For more on this research, see 2,000 Genetic Signals Linked to Blood Pressure Discovered in Study of Over a Million People.

Reference: Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits by Jacob M. Keaton, Zoha Kamali, Tian Xie, Ahmad Vaez, Ariel Williams, Slavina B. Goleva, Alireza Ani, Evangelos Evangelou, Jacklyn N. Hellwege, Loic Yengo, William J. Young, Matthew Traylor, Ayush Giri, Zhili Zheng, Jian Zeng, Daniel I. Chasman, Andrew P. Morris, Mark J. Caulfield, Shih-Jen Hwang, Jaspal S. Kooner, David Conen, John R. Attia, Alanna C. Morrison, Ruth J. F. Loos, Kati Kristiansson, Reinhold Schmidt, Andrew A. Hicks, Peter P. Pramstaller, Christopher P. Nelson, Nilesh J. Samani, Lorenz Risch, Ulf Gyllensten, Olle Melander, Harriette Riese, James F. Wilson, Harry Campbell, Stephen S. Rich, Bruce M. Psaty, Yingchang Lu, Jerome I. Rotter, Xiuqing Guo, Kenneth M. Rice, Peter Vollenweider, Johan Sundstrm, Claudia Langenberg, Martin D. Tobin, Vilmantas Giedraitis, Jianan Luan, Jaakko Tuomilehto, Zoltan Kutalik, Samuli Ripatti, Veikko Salomaa, Giorgia Girotto, Stella Trompet, J. Wouter Jukema, Pim van der Harst, Paul M. Ridker, Franco Giulianini, Veronique Vitart, Anuj Goel, Hugh Watkins, Sarah E. Harris, Ian J. Deary, Peter J. van der Most, Albertine J. Oldehinkel, Bernard D. Keavney, Caroline Hayward, Archie Campbell, Michael Boehnke, Laura J. Scott, Thibaud Boutin, Chrysovalanto Mamasoula, Marjo-Riitta Jrvelin, Annette Peters, Christian Gieger, Edward G. Lakatta, Francesco Cucca, Jennie Hui, Paul Knekt, Stefan Enroth, Martin H. De Borst, Ozren Polaek, Maria Pina Concas, Eulalia Catamo, Massimiliano Cocca, Ruifang Li-Gao, Edith Hofer, Helena Schmidt, Beatrice Spedicati, Melanie Waldenberger, David P. Strachan, Maris Laan, Alexander Teumer, Marcus Drr, Vilmundur Gudnason, James P. Cook, Daniela Ruggiero, Ivana Kolcic, Eric Boerwinkle, Michela Traglia, Terho Lehtimki, Olli T. Raitakari, Andrew D. Johnson, Christopher Newton-Cheh, Morris J. Brown, Anna F. Dominiczak, Peter J. Sever, Neil Poulter, John C. Chambers, Roberto Elosua, David Siscovick, Tnu Esko, Andres Metspalu, Rona J. Strawbridge, Markku Laakso, Anders Hamsten, Jouke-Jan Hottenga, Eco de Geus, Andrew D. Morris, Colin N. A. Palmer, Ilja M. Nolte, Yuri Milaneschi, Jonathan Marten, Alan Wright, Eleftheria Zeggini, Joanna M. M. Howson, Christopher J. ODonnell, Tim Spector, Mike A. Nalls, Eleanor M. Simonsick, Yongmei Liu, Cornelia M. van Duijn, Adam S. Butterworth, John N. Danesh, Cristina Menni, Nicholas J. Wareham, Kay-Tee Khaw, Yan V. Sun, Peter W. F. Wilson, Kelly Cho, Peter M. Visscher, Joshua C. Denny, Million Veteran Program, Lifelines Cohort Study, CHARGE consortium, ICBP Consortium, Daniel Levy, Todd L. Edwards, Patricia B. Munroe, Harold Snieder and Helen R. Warren, 30 April 2024, Nature Genetics. DOI: 10.1038/s41588-024-01714-w

The project was led by researchers at NHGRI in collaboration with Queen Mary University of London, Vanderbilt University Medical Center, Nashville, Tennessee, the University of Groningen in the Netherlands and other institutions, as part of the International Consortium of Blood Pressure. Over 140 investigators from more than 100 universities, institutes and government agencies contributed to this international study.

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Scientists Unveil the Genetic Blueprint of Blood Pressure - SciTechDaily

Genetics

Analysis | An NIH genetics study targets a long-standing challenge: Diversity – The Washington Post

Good morning. Im Lauren Sausser, a KFF Health News reporter based in Charleston, S.C., where my allergy shots seemed to stop working around mid-February. I cover health-care news across the South, often issues related to health equity. Send story ideas to lsausser@kff.org.

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Todays edition: Medicare is headed for insolvency, though the economy has bought it some extra time, according to a new report. The Biden administration says a public education campaign on vaccination saved tens of thousands of lives. But first

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Analysis | An NIH genetics study targets a long-standing challenge: Diversity - The Washington Post

Genetics

NSF grant to fund research on genetics and physiology of corn kernel development – Penn State University

Chopra suggested that studys findings may help provide the genetic and epigenetic basis of metabolic processes that are required for the development of a healthy corn kernel, which could inform increased quality and production in the future. Epigenetics refer to when genes functions are modified without any change in their DNA sequences, Chopra said, creating silent genes whose traits are not expressed in the organism. A better understanding of what induces gene silencing, and how they impact the organism, could help inform methods to create stress-resilient crops, according to the researchers.

The project will use cutting-edge instruments and expertise available through the Core Facilities of the Penn State Huck Institutes of the Life Sciences, including collaboration with Neela Yennawar, director of the X-Ray Crystallography and Automated Biological Calorimetry facility.

Also, the researchers in Chopras lab will work with Natasha Tirko, director of the Master of Biotechnology Degree Program of the Huck Institutes, to organize a program for local high schoolers to gain hands-on laboratory and field exercises to learn about the inheritance of crop traits. The program, called Corn Summer Internships in Gene Silencing, will provide participants the opportunity to use plant phenotypes observablecharacteristics resulting from the interaction of plants with their environment to study what triggers epigenetic gene silencing.

These outreach activities will be in collaboration with Caitlin Teti, director and Carol-Beth Book, education program specialist of the Penn State Office of Science Outreach. This project will also involve Virginia State University faculty members Sarah Witiak and Rafat Siddiquiand their undergraduates, who will participate in research and outreach activities at Penn State.

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NSF grant to fund research on genetics and physiology of corn kernel development - Penn State University

Genetics

Honey Creek Beef farm’s success spurred by focus on animal comfort, genetics and feed – Dayton Daily News

Generational farming

The couple, who have been married for almost 10 years, were inspired by Grimes family history in the farming industry. Her late-father had started grain farming in the 1980s after owning the John Deere Dealership in Urbana and his father had raised Angus and Hereford cattle on the same property. Grimes said her great-grandmother was the one that started the family in the farming industry in the 1930s raising everything from hogs and sheep to various crops.

Grimes originally went to college in Florida to study business, but returned home and started studying agricultural business at The Ohio State University. At this time, she was working on the grain farm with her dad.

Frantz did not come from a farming family, but said he had wanted to be a farmer since high school. He recalled working at a dairy farm milking cows his junior and senior years and falling in love with the personalities of the animals. With some guidance from a professor at Wilmington College, he graduated with a degree in agronomy. He was working for an agriculture retail supplier where he met Grimes because her dad was one of his customers.

The start of Honey Creek Beef

There were two unique instances that sparked the start of Honey Creek Beef.

The couple recalled going to a farming conference in Minnesota where one of the speakers suggested that as grain farmers we should be looking for alternative markets to sell our grain on a more regular basis, Frantz said.

This was at a time when grain prices were fairly low, Grimes added. One of the suggestions was to deliver grain to a cattle, chicken or hog farm and they thought why not take it to their own livestock operation.

They also recalled eating dinner at Seasons Bistro and Grille, previously located at 28 S. Limestone St. in Springfield, and talking with co-owner Doug McGregor about where he sourced the restaurants beef from. Frantz said McGregor was using a corporate distributor because he was having a hard time getting the same quality and consistency locally.

And that just kind of lit a fire under Adam, Grimes said.

Seasons Bistro and Grille became their first customer.

Its all about genetics

The couple is raising American Black Angus cattle due to their genetics.

Angus genetics have given us a set of cows and bulls that basically take care of themselves as long as they have good grass and fresh water, Frantz said. The American Angus Association has done a lot of genetic research to help create a modern cow that produces healthy calves and eventually high quality steaks.

Frantz is breeding for cows with a maternal characteristic meaning they are good mothers to their calves and dont need assistance. Hes looking at their carcass traits for marbling and the size of the ribeye loin. He said the way cows bodies develop is genetic. He also makes sure the cows on his farm are docile to protect those that work at their farm like farmhands Jacob Green and Katie Turner.

Feed is grown on the same farm

All cows at Honey Creek Beef are fed grass that is grown at the farm.

Nutritional cool season grasses have the best nutrition for cattle, Frantz said.

Their cows are fed a mix of orchard grass, perennial ryegrass, Kentucky bluegrass and Timothy grass. They also use Triticale, a hybrid grass with a high nutritional value, in the winter months when grasses dont grow very well. When they feed the cows Triticale, they also mix in haylage or corn silage based on what an animal nutritionist recommends.

We dont use any unnecessary medications on this farm, Frantz said. We dont use any feed additives that are medications or anything like that and we dont use any hormone injections. We think the genetics itself has all the right balance of what that animal needs.

Soil health and conservation are also extremely important at Honey Creek Beef.

We make decisions that have lasting impacts on the soil and we are constantly thinking of ways to make it better, Frantz said.

Cow comfort and care

Another important part of Honey Creek Beef is cow comfort and care. They want their cows to naturally exist without constant influence from humans to alleviant any stress.

Their comfort, ability to choose their own feed, and an all natural pasture environment, contribute heavily to the quality of the meat and are critical to the success of the farm, Frantz said.

If a cow is stressed, then the quality of its beef decreases. This could result in tougher and less marbled meat, Frantz said.

To create a less stress or no stress environment, Honey Creek Beef uses horses and horsemanship. Frantz said the cows are less stressed when their team is riding horseback through the pasture, rather than driving an ATV or pick-up truck.

Growing the herd from scratch

Honey Creek Beef started off with two heifers (female cows that havent given birth). They ended up breeding one and then buying three female calves from partner rancher Wesley Lambert, who has became a huge influence in helping Frantz grow his herd from scratch.

A lot of beef farmers they will buy calves just to feed out (and then sell the beef). All of our calves are born here, Grimes said.

The couple breeds every cow on the farm to calve every 11 months. They have two bulls that are rotated. With the bulls, they make sure bloodlines do not overlap and that their characteristics are a good match for their average cow.

When a cow has a bull, Honey Creek Beef castrates the bull at six months and separates it from the mom. The bull is fed on a separate pasture and lives until about one year old. Their goal is to raise the bulls naturally to 1,200 pounds before they are harvested. Frantz said the average age a steer is harvested in the U.S. is 18 to 24 months. Honey Creek Beef is able to harvest younger steers resulting in more tender and higher quality beef.

All steers are taken to Cavens Meats, an Ohio Department of Agriculture inspected facility located in Fletcher right outside of Piqua.

Its an important part of this process too for us to make sure its done with the same quality and care standards that animal has experienced for its entire life, Frantz said.

Honey Creek Beef harvests one steer a week resulting in 500 pounds of processed, package beef products like steaks, ground beef, roast, hamburger patties or bratwurst, Frantz said.

Where to find Honey Creek Beef

Honey Creek Beef can be found at the Springfield Farmers Market, Harmony Farm Market & Gifts in Springfield, Gills Quality Meat Market in Springfield, Charlos Provisions & Eatery in Springfield, Harens Market in Troy and Current Cuisine in Yellow Springs.

The cattle farm is also open from 11 a.m. to 2 p.m. every Sunday for customers to buy meat and see where their meat is coming from. If youve never had Honey Creek Beef, the couple recommends trying their burgers, ribeyes, New York strips or chuck roasts.

Honey Creek Beef also works with several chefs with restaurants and food trucks in the Dayton and Springfield area including CULTURE in Dayton, Little Fish Brewing Company in Dayton, Seasons Kitchen in Springfield, Sushi Hikari Moe in Springfield, Fully Cooked Sushi in Springfield and Yellow Springs Baking Company in Yellow Springs.

The couple said working with local chefs is one of the best parts because its amazing to see what they are able to create using their beef.

Chefs were where we wanted to go because raising this beef is an art for us, Frantz said. Cowboying is an art. The chef world is an art.

Future of Honey Creek Beef

Honey Creek Beef wants to continue growing their business in a sustainable and organic way in 2024. They hope to reach more customers and get more people on the farm to help make the connection of where their food is coming from.

They also plan to start a second pasture near their main farm location.

Im proud of being able to say when I was a little kid this is what I wanted to do and were actually doing it, Frantz said.

Honey Creek Beef is named after the creek located across the street from the farm. For more information or to order beef, visit honeycreekbeef.com or the farms Facebook or Instagram pages (@honeycreekbeef).

Natalie Jones writes about where our food comes from and dining in Dayton and the Southwest Ohio region. If you would like your business to be considered for this feature, email natalie.jones@coxinc.com or find her on TikTok @natalie_reports and Instagram @natalie_reports937.

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Honey Creek Beef farm's success spurred by focus on animal comfort, genetics and feed - Dayton Daily News

Genetics

Deciphering genetic diversity in conserved cattle bulls to achieve sustainable development goals | Scientific Reports – Nature.com

National Gene Bank, ICAR-NBAGR, Karnal is dedicated to achieve Sustainable Development Goals (SDG) through conserving genetic diversity through preserving semen, somatic cell, and embryos for long term storage. Along with the conservation of animal genetic resources, assessment of genetic diversity is crucial for preserving genetic diversity and preventing the loss of undesirable alleles. This finding of this study revealed excessive heterozygosity across all the cattle populations conserved at National Gene Bank, ICAR-NBAGR. This statement can be validated by comparing the expected (0.650.01) and observed (0.720.01) heterozygosity across all the cattle population conserved.

In this study, a total of 267 alleles were identifed across all the 192 cattle bulls samples using 17 microsatellite markers (1.36 alleles/individual). However, previous studies revealed 1.2217, 1.2518, and 0.70710 alleles per individual in Indian cattle populations. The detection of a higher number of alleles per individual in conserved cattle bulls indicates that substantial amount of allelic variation is being maintained at National Gene Bank. Moreover, it is worth mentioning that smaller number of microsatellite primer pairs (17) were used for this study as compared to the previous studies, which again provides an indication towards existence of sufficient allelic variation in the conserved semen samples. Interestingly, ILSTS34 marker contributed highest number of alleles (26) in the selected individuals, which is well corroborated with the previous studies10,18.

In this study, we observed wide range of average observed number of alleles per locus, ranging from 2.2350.202 in Amritmahal to 8.6470.790 in Haryana cattle. This variation may be attributed to significant differences in the sample sizes of the conserved cattle populations at the National Gene Bank. Further, average observed number of alleles across all the populations and loci was 5.2760.145, and was lower than other research reports published elsewhere10,18,19. However, when comparing specific breeds, the allelic diversity in Sahiwal cattle (8.00.928) and Haryana cattle (8.6470.790) was found to be higher than what was previously reported in studies by Mukesh et al.17 and Sharma et al.10. At global level, less allelic diversity was observed across all the populations as compared to exotic breeds such as Burlina, Brown Swiss and Holstein Friesian cattle20. Additionally, lower value of effective number of alleles as compared to observed number of alleles across all the cattle populations suggested that there were many low frequency alleles in the populations. This reduced allelic diversity in the current scenario can be attributed to the smaller sample sizes per breed compared to previous studies. It is recommended that maximum allelic diversity be conserved in various Gene Banks established worldwide to ensure future sustainability.

The detection of a high level of observed heterozygosity (0.720.01) across all loci and populations in the conserved cattle bulls signifies a remarkable degree of genetic diversity. This can be attributed to a reduced influence of human-driven selection pressures and suggests the presence of large effective population sizes in the considered Indian cattle populations. The substantial genetic variation observed in Indian cattle breeds has likely contributed to their adaptability across diverse agroclimatic regions. This genetic diversity is likely a result of environmental pressures for adaptability and natural processes of mutation. The indigenous Indian cattle populations, managed according to local use and traditional husbandry practices, have shown no signs of inbreeding issues and have successfully maintained a higher level of genetic variability. This enhanced genetic diversity has played a crucial role in their superior adaptation to the natural environment. This genetic diversity can be well exploited for cattle genetic improvement as well as to facilitate rapid adaptation to changed breeding goals21. Genetic diversity is essential for any population to adapt and survive in their environments. It also facilitates local population or breed adaptation to dynamic environments. Further, leveraging high genetic diversity becomes crucial for expanding the genetic pool when a concerned breed or population confronts issues such as inbreeding and diminished genetic diversity, which in turn increases the risk of extinction.

The overall estimate of observed heterozygosity in the present investigation (0.720.01) was higher than previous investigations such as Tharparkar (0.643) and Rathi (0.694) cattle22, Kherigarh cattle19, and 15 other Indian cattle breeds23. Moreover, it was found higher than Indonesian cattle breeds24 Hartn del Valle, Angus, Brangus, Holstein, and Senepol cattle breeds in Colombia Montoya et al.25 and selected Ethiopian indigenous cattle26. An interesting observation was made in this study, wherein it was found that expected heterozygosity is either equal or less than observed heterozygosity in all the populations under investigation. It is worth mentioning that many studies explaining genetic diversity using microsatellite markers have found out less observed heterozygosity than expected heterozygosity10,17,20,22,27 except few28. This further confirms that a substantial level of genetic diversity is being effectively maintained in the conserved cattle bulls at the National Gene Bank, ICAR-NBAGR.

All cattle populations conserved at National Gene Bank revealed no heterozygote deficit except the Amritmahal cattle (0.058). These finding may be interpreted as cattle bulls conserved might be produced through outcrossing. Further, these results are well corroborated with the pattern expressed in estimates of heterozygosity and suggests lack of inbreeding in the conserved cattle bulls The National Gene Bank's long-term efforts in conserving cattle bulls have successfully preserved high levels of genetic diversity. In India, lack of structured breeding programme at the village level and not culling of cattle bulls may contribute to the maintenance of substantial genetic diversity within and between Indian cattle populations. In contrast, many Indian cattle populations have revealed significant homozygote excess in the previous study10,22. This heterozygote deficit might be due to collection of samples from closed herd or from sampling error.

Wrights F-statistics, and particularly FST, are valuable tools for understanding the evolutionary processes that shape the structure of genetic variation within and between populations, and they are among the most widely used descriptive statistics in population and evolutionary genetics. In population differentiation, a FST value greater than 0.15 is typically considered significant29. The highest FST value were found between Gir and Amritmahal cattle (0.185), Red Kandhari and Amritmahal (0.182), and Gangatiri and Amritmahal (0.176). This result revealed within-breed genetic variation is more than between-breed genetic variation. Further, this genetic variation could be well utilised for genetic upgradation and conservation of cattle populations in India. Further, the overall FST, F IT and FIS value across the loci and population is 0.1460.009, 0.0540.038, and 0.1050.035, respectively. These estimates obtained in the present investigation suggests lack of inbreeding in the conserved bull semen. However, these type of findings are rarely observed in natural conditions. Mostly, FIS would be positive and FIT>FST, this could be considered as evidence of inbreeding30. It is commonly hypothesized that in a population where mating occurs randomly, genes would exhibit equal levels of relatedness both within individuals and between individuals. In such conditions FIT equals FST or FIS equals zero22. Sodhi et al.22 reported F-statistics: FIS=0.1120.029, F IT=0.1690.033, F ST=0.0650.017, and interpreted departure of populations from random mating. In addition, across all the loci under investigation, FST ranged from 0.068 (ILSTS11) to 0.199 (ETH3) with an average of 0.146. This FST values revealed that the most of total allelic variation (85.4%) corresponds to differences among individuals, and only 14.5% genetic variation could be attributed to differences among breeds. Further, ETH3 (0.199), TGLA122 (0.195), MM8 (0.192), ILSTS06 (0.188), ETH10 (0.171), MM12 (0.161), BM1824 (0.156) markers might be considered as more informative to differentiate the populations under investigation. However, this statement need to be validated in large number of individuals of populations under study.

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Deciphering genetic diversity in conserved cattle bulls to achieve sustainable development goals | Scientific Reports - Nature.com

Genetics

Kids Shape Their Development to Match Genetic Tendencies – Neuroscience News

Summary: Preschool children actively influence their own development to align with their genetic dispositions. By examining how toddlers interact with their environment, including activities like reading and puzzles, researchers found that childrens preferences impact how they engage in cognitive stimulation at home.

This active involvement helps shape their brain development alongside environmental factors. The findings emphasize the dynamic interplay between genetics and environment in early childhood, challenging the traditional views of passive developmental processes.

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Source: University of York

In a study carried out by experts in child development at the University of York, researchers have found that pre-school children actively select, shape and create their own experiences to match their genetic tendencies.

The researchers looked at how genes and the environment work together to shape the brain development of children between the ages of two and four.

They found that rather than being passive recipients of the environment around themsuch as the behavior and likes and dislikes of their parentsthey also had a strong say in creating their own experiences based on their inherited preferences and character traits.

The researchers looked at early cognitive stimulation at home including talking, singing, nursery rhymes, books and engaging with toys and puzzles. They found that children drove decisions on which activities to focus on and how often to do them at least as much as their caregivers.

Professor Sophie von Stumm from the Department of Education at the University of York, said, As many parents will know, small children are already very clear about what they do and dont like and this study cements the theory that, even at a young age, children are actively shaping their experiences at home.

A childs preferences and differences in character will evoke distinct reactions from their caregivers. For example, if a child enjoys reading they will sit and focus on a book, which is likely to motivate caregivers to read with them more and provide more books.

The debate over whether a childs character and abilities are down to nature or nurture is long-running, but our findings show how genes and the environment act as a combined force.

Our study can also explain why even siblings growing up in the same house can differ so widely in their behavioral tendencies,emotional development, and learning abilities.

The research is the first systematic study of genetics and the environment and how they interplay in very young children.

Thereportis titled Gene-environment interplay inearly lifecognitive development.

The study used data from the Twins Early Development Study, which followed over 15,000 families with twins born between 1994 and 1996 in England and Wales.

Over the course of this longitudinal study, twins verbal and nonverbal cognitive development was assessed at different ages, including at two, three and four, via standardized testing and extensive parent and self-reports.

Lead author of the report, Dr. Alexandra Starr, a researcher in the Department of Education at the University of York, said, We wanted to look at the early years because we know that children are already very different before they start school, and these differences in cognitive and socio-emotional development have important long-term consequences.

Early differences grow and become greater as children get older, leading to a snowball effect.

The early home environment is particularly important to brain development, we know so many outcomes in later life are related to thisfrom educational achievement, career success and income level to well-being and the ability to have stable relationships with others.

To tease apart the factors that aid childrens development, the researchers used a powerful method calledpolygenic scores. Polygenic scores capture DNA variants that are passed on from parents to children and that can indicate how likely a person is to, for example, do well at school.

The researchers tested interactions between polygenic scores for cognitive development and environmental factors.

If we understand how childrens differences come about in early life it could help to identify children in need of intervention as soon as possible, added Dr. Starr.

For example, we could use DNA to identify children at genetic risk of developing reading problems, and offer them early intervention before maladaptive behaviors, like avoiding books, manifest. Preventive measures have a greater chance of being successful when implemented early in life.

Polygenic scores are so powerful because they can predict traits at birth just as well as later in life, acting as an early warning system which could be of particular help for those children who are likely to struggle the most.

The study found that the early home environment contributes more to differences in children than genetic effects, but the researchers believe that in future even better genetic methods will be available.

These will show that genetics and the environment contribute equally to the differences between children.

People tend to be mistrustful of genetic testing because they fear it will result in discrimination, added Professor von Stumm.

Our study makes the case for more research on genetics, so that we can maximize the potential benefits of genetics and minimize their risks in the future, especially in the context ofchild development.

Currently we tend to diagnose conditions like dyslexia and reading disorders when children are already struggling and have fallen behind.

The latest advancements in genetic testing could mean we may one day be able to help children avoid reading difficulties altogether because we can support them effectively before they experience any of the struggles that are currently associated with dyslexia.

Author: Sophie von Stumm Source: University of York Contact: Sophie von Stumm University of York Image: The image is credited to Neuroscience News

Original Research: The full report Gene-environment interplay in early life cognitive development is available online.

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Kids Shape Their Development to Match Genetic Tendencies - Neuroscience News

Genetics

Navigating the Complexities of Payment for Genetic Testing – MedCity News

In the rapidly evolving landscape of healthcare, the expansion of genetic testing stands out as a monumental leap forward. The field of genetic testing has grown exponentially over the past decade, with available tests skyrocketing from 10,000 in 2012 to over 175,000 today a staggering 1650% increase with an estimated ten new tests introduced daily. And as the link between genetics and diseases is better understood, genetic testing is being applied across new specialties. While this diagnostics revolution holds immense potential to transform personalized medicine through early risk detection and personalized treatment plans, it also presents significant challenges particularly around payment accuracy.

Current challenges faced by health plans

While the use of genetic testing surges, health plans grapple with challenges influencing appropriate spending, administrative costs, and operational efficiency. Some key issues include:

As health plans struggle to keep pace with advancements in genetic testing, there is a pressing need for solutions to streamline processes, improve accuracy, and reduce administrative waste.

The power of strategic partnerships and specialized expertise

To address genetic testing claims complexity, as well as aligning payment with appropriate rules and reimbursement methodology, health plans are increasingly partnering with specialized companies with applied expertise in this domain. These collaborations aim to bridge the gap between clinical knowledge and administrative processes, enabling payers to better navigate the intricacies of payment accuracy related to genetic testing.

By leveraging the capabilities of specialized partners, health plans can access technologies such as AI-powered claims editing systems, which can identify and correct coding errors, detect potential fraud, and ensure compliance with evidence-based policies and guidelines. These solutions not only improve payment accuracy but also reduce the manual review burden on health plan staff.

Strategic partnerships also can help health plans stay ahead of the curve on policy development and provider education. Specialized companies often have dedicated clinical teams that continuously monitor the latest advancements and translate this knowledge into actionable insights. This includes developing policies around genetic testing administration and educating on test ordering and claim submission best practices.

Recommended solutions for health plans

To better manage genetic testing claims and improve overall outcomes, health plans should consider the following recommendations:

Collaboration, transparency, and innovation

The key to success lies in fostering a collaborative ecosystem that prioritizes transparency, education, and innovation. Health plans, partners, and providers must work together to ensure that the benefits of genetic testing are realized while maintaining payment integrity, which ultimately benefits patients by giving them a clear understanding of not only of their clinical situation, but their financial obligation.

This collaboration should focus on developing clear, evidence-based policies for coverage and reimbursement: Investing in solutions to automate claims processing and fraud detection, educating providers, and ensuring transparency among all stakeholders.

By embracing strategic partnerships and innovative solutions, health plans can manage the complexities of genetic testing claims while unlocking the immense potential of precision medicine to improve patient outcomes and drive healthcare transformation.

Photo by Flickr user Petra B. Fritz

Brian Berkowitz is the vice president of strategy & corporate development at Lyric, a health tech company dedicated to helping simplify the business of care. He leverages his deep, proven healthcare domain expertise and dynamic problem-solving skills to catalyze growth for the organization, which helps improve payment accuracy and integrity for eight of the nine top payers and many health plans covering more than 185 million individuals.

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Navigating the Complexities of Payment for Genetic Testing - MedCity News