rs11067211 - UBE3B - MMAB

Magnitude 2.0 · 2 studies on file

Reported associations

• Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract - Communications biology (2021) · Yonova-Doing E, Zhao W, Igo RP, Wang C, Sundaresan P, Lee KE, Jun GR, Alves AC, Chai X, Chan ASY, Lee MC, Fong A, Tan AG, Khor CC, Chew EY, Hysi PG, Fan Q, Chua J, Chung J, Liao J, Colijn JM, Burdon KP, Fritsche LG, Swift MK, Hilmy MH, Chee ML, Tedja M, Bonnemaijer PWM, Gupta P, Tan QS, Li Z, Vithana EN, Ravindran RD, Chee SP, Shi Y, Liu W, Su X, Sim X, Shen Y, Wang YX, Li H, Tham YC, Teo YY, Aung T, Small KS, Mitchell P, Jonas JB, Wong TY, Fletcher AE, Klaver CCW, Klein BEK, Wang JJ, Iyengar SK, Hammond CJ, Cheng CY · PubMed 33311586

  ABSTRACT: Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10−16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 10−19), TMPRSS5 (rs4936279, P = 2.5 × 10−10), LINC01412 (rs16823886, P = 1.3 × 10−9

• Leveraging Polygenic Functional Enrichment to Improve GWAS Power. - American journal of human genetics (2019) · Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL · PubMed 30595370

  Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyses. We show via simulations with real genotypes that the method, functionally informed novel discovery of risk loci (FINDOR), correctly controls the false-positive rate at null loci and attains a 9%-38% increase in the number of independent associations detected at causal loci, depending on trait polygenicity and sample size. We applied FINDOR to 27 independent complex traits and diseases from the interim UK Biobank release (average N = 130K). Averaged across traits, we attaine

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