Publications by authors named "E Sarihan"
Article Synopsis
- Researchers have advanced understanding of Parkinson's disease genetics through genome-wide association studies (GWAS) but have found that many genetic factors still contribute to its heritability, potentially due to interactions between variants (epistasis).
- A new screening method, VARI3, was developed to investigate these interactions using data from numerous cohorts, successfully identifying notable variant interactions in genes like SNCA, MAPT, and WNT3.
- The study demonstrated that these epistatic signals were present across different ethnic backgrounds, including European and Native American ancestries, and linked to important biological functions related to Parkinson's disease risk.
Background: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear.
Objective: The objective of this study was to perform the first X-chromosome-wide association study for PD risk in a Latin American cohort.
Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals.
View Article and Find Full Text PDFPolygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort.
Parkinsonism Relat Disord
September 2022
Article Synopsis
- Previous Parkinson's disease genome-wide association studies (GWAS) focused mainly on individuals of European ancestry, resulting in polygenic risk scores (PRS) that may not accurately predict PD risk in non-European populations.
- In this study, a PD PRS was developed specifically for a Latino cohort and validated using data from independent Latino subjects and additional Peruvian controls, which showed varying predictive strengths.
- Findings indicate that while the PRS shows promise for predicting PD risk among Latinos, differences in genetic ancestry and the limitations of relying on European data highlight the need for more inclusive research to refine risk prediction across diverse populations.
Objective: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data.
Methods: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value <1 × 10 were tested in a replication cohort of 1,234 self-reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc.