rs112367696 - ERVK13-1

Magnitude 4.5 · 2 studies on file

Reported associations

• Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population. - Science China. Life sciences (2020) · Huang L, Chen Y, Lin Y, Tam POS, Cheng Y, Shi Y, Gong B, Lu F, Yang J, Wang H, Yin Y, Cao Y, Jiang D, Zhong L, Xue B, Wang J, Hao F, Lee DY, Pang CP, Sun X, Yang Z · PubMed 30591961

  Intraocular pressure (IOP) is a major risk factor for glaucoma. Genetic determinants of intraocular pressure can provide critical insights into the genetic architecture of glaucoma and, as a result, open new avenues for therapeutic intervention. We performed a genome-wide association study and replication analysis of 8,552 Chinese participants. In the genome-wide association study, we identified 51 loci that surpassed the significance of P<9×10 , and we formally replicated these loci. A combined discovery and replication meta-analysis identified 21 genome-wide loci that surpassed the genome-wide significance of P<5×10 , including 4 previously reported loci: rs145063132 (7p21.2, ETV1/DGKB), rs548030386 (7q31.2, ST7 near CAV1/CAV2), rs7047871 (9p24.2, GLIS3), and rs2472494 (9q31.1, ABCA1/S

• A scalable variational inference approach for increased mixed-model association power - Unknown journal (n.d.) · Unknown authors · PubMed 39789286

  ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%

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