rs10992195 - SPTLC1

Magnitude 2.8 · 1 study on file

Reported associations

  • Genome-Wide Polygenic Risk Score for Predicting High Risk Glaucoma Individuals of Han Chinese Ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 34834521

    ABSTRACT: Glaucoma is a progressive and irreversible blindness-causing disease. However, the underlying genetic factors and molecular mechanisms remain poorly understood. Previous genome-wide association studies (GWAS) have made tremendous progress on the SNP-based disease association and characterization. However, most of them were conducted for Europeans. Since differential genetic characteristics among ethnic groups were evident in glaucoma, it is worthwhile to complete its genetic landscape from the larger cohorts of Asian individuals. Here, we present a GWAS based on the Taiwan Biobank. Among 1013 glaucoma patients and 36,562 controls, we identified a total of 138 independent glaucoma-associated SNPs at the significance level of p < 1 × 10−5. After clumping genetically linked SNPs


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • ophthalmologic screening for early glaucoma detection Moderate

    The rs10992195-G risk allele increases glaucoma susceptibility; early detection is critical as glaucoma is irreversible and progressive

    Regular comprehensive eye exams with ophthalmologist; discuss glaucoma risk based on genetic test results