Expressive

rs1181388 - CD28

Magnitude 2.2 · 2 studies on file

Reported associations

  • The genome-wide association study of serum IgE levels demonstrated a shared genetic background in allergic diseases. - Clinical immunology (Orlando, Fla.) (2024) · Lu HF, Chou CH, Lin YJ, Uchiyama S, Terao C, Wang YW, Yang JS, Liu TY, Wong HS, Chen SC, Tsai FJ · PubMed 38199299

    Immunoglobulin E (IgE) synthessis is highly related to a variety of atopic diseases, and several genome-wide association studies (GWASs) have demonstrated the association between genes and IgE level. In this study, we conducted the largest genome-wide association study of IgE involving a Taiwanese Han population. Eight independent variants exhibited genome-wide significance. Among them, an intronic SNP of CD28, rs1181388, and an intergenic SNP, rs1002957030, on 11q23.2 were identified as novel signals for IgE. Seven of the loci were replicated successfully in a meta-analysis using data on Japanese population. Among all the human leukocyte antigen (HLA) regions, HLA-DQA103:02 - HLA-DQB103:03 was the most significant haplotype (OR = 1.25, SE = 0.02, FDR = 1.6 × 10 ), corresponding

  • Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome - Unknown journal (n.d.) · Unknown authors · PubMed 37120605

    ABSTRACT: Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific GWAS. We discover twelve significant associations-eight from the multi-population meta-analysis (four novel), two from the multi-population conditional analysis (one novel), and two additional novel loci from the European meta-analysis. Fine-mapping implicates specific amino acid haploty

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