rs11150612 - ITGAM - ITGAX

Magnitude 2.2 · 4 studies on file

Reported associations

• Genome-Wide Meta-Analysis Identifies Three Novel Susceptibility Loci and Reveals Ethnic Heterogeneity of Genetic Susceptibility for IgA Nephropathy. - Journal of the American Society of Nephrology : JASN (2021) · Li M, Wang L, Shi DC, Foo JN, Zhong Z, Khor CC, Lanzani C, Citterio L, Salvi E, Yin PR, Bei JX, Wang L, Liao YH, Chen J, Chen QK, Xu G, Jiang GR, Wan JX, Chen MH, Chen N, Zhang H, Zeng YX, Liu ZH, Liu JJ, Yu XQ · PubMed 32912934

  Eighteen known susceptibility loci for IgAN account for only a small proportion of IgAN risk. Genome-wide meta-analysis was performed in 2628 patients and 11,563 controls of Chinese ancestry, and a replication analysis was conducted in 6879 patients and 9019 controls of Chinese descent and 1039 patients and 1289 controls of European ancestry. The data were used to assess the association of susceptibility loci with clinical phenotypes for IgAN, and to investigate genetic heterogeneity of IgAN susceptibility between the two populations. Imputation-based analysis of the MHC/HLA region extended the scrutiny. Identification of three novel loci (rs6427389 on 1q23.1 [ =8.18×10 , OR=1.132], rs6942325 on 6p25.3 [ =1.62×10 , OR=1.165], and rs2240335 on 1p36.13 [ =5.10×10 , OR=1.114]), implicates

• 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%

• Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy - Unknown journal (n.d.) · Unknown authors · PubMed 37337107

  ABSTRACT: IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-diagnosed IgAN cases and 28,751 controls across 17 international cohorts. We defined 30 genome-wide significant risk loci explaining 11% of disease risk. A total of 16 loci were new, including TNFSF4/TNFSF18, REL, CD28, PF4V1, LY86, LYN, ANXA3, TNFSF8/TNFSF15, REEP3, ZMIZ1, OVOL1/RELA, ETS1, IGH, IRF8, TNFRSF13B and FCAR. The risk loci were enriched in gene orthologs causing abnormal IgA levels when genetically manipulated in mice. We also observed a positive genetic correlation between IgAN and serum IgA levels. High polygenic score for IgAN was associated with earlier onset of kidney failure. In a compr

• Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens - Unknown journal (n.d.) · Unknown authors · PubMed 25305756

  ABSTRACT: We performed a genome-wide association study (GWAS) of IgA nephropathy (IgAN), the most common form of glomerulonephritis, with discovery and follow-up in 20,612 individuals of European and East Asian ancestry. We identified six novel genome-wide significant associations, four in ITGAM-ITGAX, VAV3 and CARD9 and two new independent signals at HLA-DQB1 and DEFA. We replicated the nine previously reported signals, including known SNPs in the HLA-DQB1 and DEFA loci. The cumulative burden of risk alleles is strongly associated with age at disease onset. Most loci are either directly associated with risk of inflammatory bowel disease (IBD) or maintenance of the intestinal epithelial barrier and response to mucosal pathogens. The geo-spatial distribution of risk alleles is highly sugges

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