Expressive

rs116114495 - PBXIP1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Association of SUMOylation Pathway Genes With Stroke in a Genome-Wide Association Study in India. - Neurology (2021) · Kumar A, Chauhan G, Sharma S, Dabla S, Sylaja PN, Chaudhary N, Gupta S, Agrawal CS, Anand KS, Srivastava AK, Vibha D, Sagar R, Raj R, Maheshwari A, Vivekanandhan S, Kaul B, Raghavan S, Gorthi SP, Mohania D, Kaushik S, Yadav RK, Hazarika A, Sharma P, Prasad K · PubMed 34031191

    To undertake a genome-wide association study (GWAS) to identify genetic variants for stroke in an Indian population. In a hospital-based case-control study, 8 teaching hospitals in India recruited 4,088 participants, including 1,609 stroke cases. Imputed genetic variants were tested for association with stroke subtypes using both single-marker and gene-based tests. Association with vascular risk factors was performed with logistic regression. Various databases were searched for replication, functional annotation, and association with related traits. Status of candidate genes previously reported in the Indian population was also checked. Associations of vascular risk factors with stroke were similar to previous reports and show modifiable risk factors such as hypertension, smoking, and alco

  • A genome-wide association study coupled with machine learning approaches to identify influential demographic and genomic factors underlying Parkinson's disease - Unknown journal (n.d.) · Unknown authors · PubMed 37842648

    ABSTRACT: Background: Despite the recent success of genome-wide association studies (GWAS) in identifying 90 independent risk loci for Parkinson's disease (PD), the genomic underpinning of PD is still largely unknown. At the same time, accurate and reliable predictive models utilizing genomic or demographic features are desired in the clinic for predicting the risk of Parkinson's disease. Methods: To identify influential demographic and genomic factors associated with PD and to further develop predictive models, we utilized demographic data, incorporating 200 variables across 33,473 participants, along with genomic data involving 447,089 SNPs across 8,840 samples, both derived from the Fox Insight online study. We first applied correlation and GWAS analyses to find the top demographic

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