rs1061539 - POLR1HASP
Magnitude 2.2 · 2 studies on file
Reported associations
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Clinical and Genetic Determinants of Varicose Veins: A Prospective, Community-Based Study of ~500,000 Individuals - Unknown journal (n.d.) · Unknown authors · PubMed 30566020
ABSTRACT: Background: Varicose veins are a common problem with no approved medical therapies. While it is believed that varicose vein pathogenesis is multifactorial, there is a limited understanding of the genetic and environmental factors that contribute to their formation. Large-scale studies of risk factors for varicose veins may highlight important aspects of pathophysiology and identify groups at increased risk for disease. Methods: We applied machine learning to agnostically search for risk factors of varicose veins in 493,519 individuals in the UK Biobank. Predictors were further studied using univariable and multivariable Cox regression analysis (2,441 incident events). A genome-wide association study (GWAS) of varicose veins was also performed among 337,536 unrelated individuals (
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Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis - Unknown journal (n.d.) · Unknown authors · PubMed 39885523
ABSTRACT: Background Psoriasis is a common chronic, recurrent, immune-mediated disease involved in the skin or joints or both. However, deeper insight into the genetic susceptibility of psoriasis is still unclear. Methods Here we performed the largest multi-ancestry meta-analysis of genome-wide association study including 28,869 psoriasis cases and 443,950 healthy controls. Results We identified 74 genome-wide significant loci for psoriasis. Of 74 loci, 32 were novel psoriasis risk loci. Across 74 loci, 801 likely causal genes are indicated and 164 causal genes are prioritized. SNP-based heritability analyses demonstrated that common variants explain 15% of genetic risk for psoriasis. Gene-set analyses and the genetic correlation revealed that psoriasis-related genes have the positive corr
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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genetic risk for psoriasis with dermatologist High
Variants at POLR1H locus are strongly associated with psoriasis susceptibility through altered immune and skin-barrier gene expression
Share this genetic finding with dermatologist
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genetic risk for varicose veins with primary care provider Moderate
This locus shows significant association with venous insufficiency and varicose vein development
Discuss preventive strategies and symptom recognition with physician
Screening
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skin for early psoriasis symptoms High
Early recognition of psoriasis manifestations in genetically at-risk individuals supports timely clinical management
Monthly skin self-examination; contact dermatologist if new plaques or scaling appear