rs1126511 - HLA-DPA1, HLA-DPB1

Magnitude 4.5 · 2 studies on file

Reported associations

• Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia. - American journal of human genetics (2021) · Li Q, Chen W, Wang C, Liu Z, Gu Y, Xu X, Xu J, Jiang T, Xu M, Wang Y, Chen C, Zhong Y, Zhang Y, Yao L, Jin G, Hu Z, Zhou P · PubMed 34197731

  Idiopathic achalasia (IA) is a severe motility disorder characterized by neuronal degeneration in the myenteric plexus, but the etiology remains largely unknown. We performed whole-exome sequencing (WES) in 100 IA-affected individuals and 313 non-IA control subjects and validated the results in 230 IA-affected individuals and 1,760 non-IA control subjects. Common missense variants rs1705003 (CUTA, GenBank: NC_000006.11:g.33385953A>G) and rs1126511 (HLA-DPB1, GenBank: NC_000006.11:g.33048466G>T) at 6p21.32 were reproducibly associated with increased risk of IA (rs1126511: OR = 1.83, p = 2.34 × 10 ; rs1705003: OR = 2.37, p = 3.21 × 10 ), meeting exome-wide significance. Both variants can affect the expression of their target genes at the transcript level. An array-based association analy

• 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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