ArticlePLoS genetics2017
GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 1 of them a synthesis that pooled it.
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Who cites it
91 citing papers in PubMed, 1 synthesis or guideline pooled it, 132 citations in OpenAlex.
- Large-scale GWAS meta-analysis of serum antibody levels in healthy individuals reveals distinct genetic architectures.Genes and immunity · 2026Pooled it
- Galactose-deficient IgA1 and the corresponding IgG autoantibodies predict IgA nephropathy progression.PloS one · 2019Trial
- Association of Complement Genetics with Outcomes in IgA Nephropathy.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Inhibition of p65 NF-κB enhances production of galactose-deficient IgA1 through suppression ofbioRxiv : the preprint server for biology · 2026Article
- Deciphering the Underlying Mechanisms Linking Psoriasis and IgA Nephropathy.Journal of immunology research · 2026Review
- The role of mucosal immune dysregulation in the pathogenesis of immunoglobulin A nephropathy.Frontiers in immunology · 2026Review
- Aberrant signaling in tonsillar B cells producing pathogenicFrontiers in immunology · 2026Review
- IgA nephropathy: a novel pathway in immunopathogenesis dependent on the timing of Epstein-Barr virus infection.Frontiers in immunology · 2026Review
- Efficacy and safety of obinutuzumab on progressive IgA nephropathy: a case series.Journal of nephrology · 2025Article
- The Immunoglobulin A Nephropathy Renaissance: From Pathogenesis to Personalized Therapy.Cureus · 2025Review
- Serum IgA isotypes are associated with percent emphysema, wall thickness and lung function decline.Thorax · 2025Article
- Glycosylation in kidney diseases.Precision clinical medicine · 2025Review
- Expected and verified benefits from old and new corticosteroid treatments in IgA nephropathy: from trials in adults to new IPNA-KDIGO guidelines.Pediatric nephrology (Berlin, Germany) · 2025Review
- The pathogenesis of IgA nephropathy and implications for treatment.Nature reviews. Nephrology · 2025Review
- The evolving understanding of systemic mechanisms in organ-specific IgA nephropathy: a focus on gut-kidney crosstalk.Theranostics · 2025Review
- Biomarker research for Henoch-Schönlein purpura nephritis based on "omics" techniques.Frontiers in medicine · 2025Review
- What is new in the pathogenesis and treatment of IgA glomerulonephritis.World journal of nephrology · 2024Review
- Genetics of IgA nephrology: risks, mechanisms, and therapeutic targets.Pediatric nephrology (Berlin, Germany) · 2024Review
- O-glycosylation of IgA1 and the pathogenesis of an autoimmune disease IgA nephropathy.Glycobiology · 2024Review
- Emerging Biochemical and Immunologic Mechanisms in the Pathogenesis of IgA Nephropathy.Seminars in nephrology · 2024Review
31 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors at 9 institutions in 5 countries.
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Abstract
Aberrant O-glycosylation of serum immunoglobulin A1 (IgA1) represents a heritable pathogenic defect in IgA nephropathy, the most common form of glomerulonephritis worldwide, but specific genetic factors involved in its determination are not known. We performed a quantitative GWAS for serum levels of galactose-deficient IgA1 (Gd-IgA1) in 2,633 subjects of European and East Asian ancestry and discovered two genome-wide significant loci, in C1GALT1 (rs13226913, P = 3.2 x 10-11) and C1GALT1C1 (rs5910940, P = 2.7 x 10-8). These genes encode molecular partners essential for enzymatic O-glycosylation of IgA1. We demonstrated that these two loci explain approximately 7% of variability in circulating Gd-IgA1 in Europeans, but only 2% in East Asians. Notably, the Gd-IgA1-increasing allele of rs13226913 is common in Europeans, but rare in East Asians. Moreover, rs13226913 represents a strong cis-eQTL for C1GALT1 that encodes the key enzyme responsible for the transfer of galactose to O-linked glycans on IgA1. By in vitro siRNA knock-down studies, we confirmed that mRNA levels of both C1GALT1 and C1GALT1C1 determine the rate of secretion of Gd-IgA1 in IgA1-producing cells. Our findings provide novel insights into the genetic regulation of O-glycosylation and are relevant not only to IgA nephropathy, but also to other complex traits associated with O-glycosylation defects, including inflammatory bowel disease, hematologic disease, and cancer.
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