Big data highlights new Parkinson’s variants

A handful of new genetic variants point to Parkinson’s disease, the National Institutes of Health (NIH) announced yesterday. The six previously unreported risk factors will contribute to researchers’ understanding as they work to develop better treatments for the neurodegenerative disease.

Researchers including Andrew Singleton, PhD, a scientist at the NIH's National Institute on Aging (NIA), and colleagues conducted the genetic analysis using a gene chip called the NeuroX, which indicated that 24 genetic variants are linked to Parkinson’s—six more than previous studies suggested. The NeuroX gene chip’s strength is in its codes of about 24,000 known genetic variants implicated in a range of brain disorders.

The genetic analysis used to discover the genetic markers included data from more than 18,000 people from a database of European subjects—about 13,708 with Parkinson's disease and 95,282 controls. The data was brought together by a collaboration of the U.S. Department of Defense, the Michael J. Fox Foundation, 23andMe and other international research groups.

“Unraveling the genetic underpinnings of Parkinson's is vital to understanding the multiple mechanisms involved in this complex disease, and hopefully, may one day lead to effective therapies," Singleton said in an official NIH press release.

Findings of the study reveal that as a patient’s number of genetic variants climb, so does their risk of developing Parkinson’s. Someone with a number of these Parkinson’s variants could have up to three times higher risk than others who do not have as many.

The research was backed up by yet another analysis of data from more than 5,000 patients and about 5,500 controls.

“Of the 32 tested [single-nucleotide polymorphisms], 24 replicated, including six newly identified loci,” wrote Singleton et al regarding the study published July 27 in Nature Genetics. “Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant.”

Some of the new variants are also linked to Gaucher's disease, a rare genetic disorder involving the lack of the glucocerebrosidase enzyme. The disease results in the accumulation of a fatty substance in cells and tissues, even bone. Researchers will have to unpack how, or if, the two diseases are related.