An international research team led by Cleveland Clinic has presented the most comprehensive characterization of the underlying genetic basis for Parkinsons disease (PD) in Latinos to date, marking an important step towards more inclusive PD genetic research.

Parkinsons disease impacts all ethnic groups, but since genetic studies have largely been limited to individuals of European and East Asian ancestry, little is known about the genetic architecture of the disease in Latino populations, said Ignacio Mata, Ph.D., assistant staff in the Genomic Medicine Institute and lead author on the study. As we see incidence rates rise in nearly every global region, the importance of greater diversity in Parkinsons research cannot be overlooked.

In this study, published in Annals of Neurology, Dr. Mata and international collaborators performed the first ever genome-wide association study (GWAS) of Latino PD patients from South America. Their analysis relied on patient data from the worlds largest PD case-control cohort of Latinos, called the Latin American Research Consortium on the Genetics of Parkinsons Disease (LARGE-PD), which includes individuals from 35 institutions in 12 countries across Latin America and the Caribbean.

Notably, they demonstrated that SNCA, a gene previously linked to PD in European and East Asian populations, had genome-wide significance in the LARGE-PD cohort and a replication cohort, indicating its critical role in PD etiology in Latinos. In addition, they identified the novel gene NRROS as a biologically plausible PD risk gene, particularly in individuals from Peru, but indicated that further studies are needed to validate this finding.

The researchers then assessed the significance of PD variants previously identified in European and East Asian populations for the LARGE-PD cohort, and found a substantial overlap of PD genetic architecture between Europeans and Latinos. They also explored the relationship between PD risk and Latino population ancestry and pinpointed variants associated with African and Native American ancestries that may influence PD risk.

As we continue our work to gain comprehensive understanding of population-specific PD genetic architecture in Latino populations, inclusion of Latino PD patients from diverse ancestral backgrounds, such as those with significant Native American or African ancestries, is a necessity, Dr. Mata said. Parkinsons is a global disease, so it is crucial that genetic studies reflect the wide diversity of patients with the disease.

Reference:Sarihan EI, Prez-Palma E, Niestroj L-M, et al. Genome-wide analysis of copy number variation in Latin American Parkinson's disease patients. Mov. Disord. 2021;36(2):434-441. doi:10.1002/mds.28353

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The Genetic Architecture of Parkinsons Disease in Latino Populations - Technology Networks