Frequent genetic variations associated with Parkinson’s risk in the study

Variations in small, repetitive DNA sequences called short tandem repeats (STRs) linked to risk of variant development Parkinson’s diseaseNew study reports.

Stephen Loeb, PhD, a professor at Northwestern University and co-author of the study, said in a statement press release.

the study, “The contribution of short, common, genome-wide tandem repeats to the genetic risk of Parkinson’s diseaseAnd theIt was published in brain.

The the reasons Parkinson’s disease is not fully understood, but it is well established that genes play an important role in determining the risk of developing the disease. Most of the genetic mutations that have been associated with Parkinson’s disease are single nucleotide polymorphisms, or SNPs, which is a change in one of the nucleotides that are the building blocks of DNA that make up the “letters” in the genetic code.

STRs and short, repetitive sequences are common in DNA. In fact, repeat elements make up more than 50% of the total human genome. Unlike some genes, these sequences do not provide instructions for making proteins. Their functions are still not well understood, but emerging research shows that they may play important roles in determining health and disease outcomes.

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A research team led by scientists in the US analyzed genetic data from more than a dozen previous studies to assess whether differences in STRs affect the risk of developing Parkinson’s disease. The analysis included data on nearly 40,000 people: 16,642 with Parkinson’s disease and 22,445 without, all of European descent.

To determine the differences associated with Parkinson’s disease, the researchers conducted genome-wide association analyzes, looking for differences that were statistically more common among people with Parkinson’s disease and that might indicate a link to disease risk.

The results identified 34 STR variants that were significantly associated with risk.

Most (88%) of STRs associated with Parkinson’s disease were located near genes previously implicated in the development of Parkinson’s disease, implying that STRs may influence risk by modulating the activity of nearby genes. For example, the strongest signal for STR was in KANSL1 which gene was tied up Previously at risk of Parkinson’s disease.

Other STR reports were close to four genes that have not been linked to Parkinson’s disease, namely NDUFAF2And the TRIML2And the miRNA 129-, And the NCOR1.

said Bernabe Ignacio Bustos, PhD, a postdoctoral research fellow in Loeb’s lab and lead author of the study.

The researchers also showed that including STR data along with SNP data increased the power of statistical models for determining the genetic contribution to Parkinson’s disease risk.

“Incorporating these findings into existing risk prediction models is important to help identify people most likely to develop Parkinson’s disease,” Loeb said.

Analyzes of gene activity in brain tissue revealed associations between risk-related STRs and the activity of genes associated with Parkinson’s disease.

We show that suspicious transactions in known and new [genes] The researchers said further studies may reveal the biological mechanisms linking these differences to Parkinson’s risk.

“Unfortunately, on a cellular level, we haven’t done that yet [know] How do these repeats lead to Parkinson’s disease, but they represent candidate variants for further functional studies that we hope will bring us one step closer to identifying a new therapeutic target,” Loeb said.

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