Three GWAS totaling tens of thousands of people, one of them tracing a link to intestinal-pathogen biology, together identified the genetic loci behind the world's most common form of glomerulonephritis.
IgA nephropathy (IgAN), also called Berger's disease, is the most common form of glomerulonephritis — kidney inflammation centered on the glomeruli, the kidney's blood-filtering units — worldwide. It occurs when immunoglobulin A (IgA), an antibody normally concentrated at mucosal surfaces, builds up in the kidney's filtering structures and triggers inflammation, which over years can damage kidney function.
Yu et al. 2011 ran a two-stage GWAS in Han Chinese: 1,434 cases and 4,270 controls at discovery, 2,703 cases and 3,464 controls at replication. The study found associations at 17p13, implicating TNFSF13, and at 8p23, implicating DEFA (alpha-defensin), plus multiple signals in the MHC immune region and a confirmed earlier finding at 22q12. This page's own variants match four of this paper's named findings directly, with the paper's own statistics: rs2738048 near DEFA (odds ratio 0.79), rs660895 in HLA-DRB1 (odds ratio 1.34, also tied to disease subtype and protein in the urine), rs1794275 near HLA-DQA/B (odds ratio 1.30), and rs12537 in MTMR3 at 22q12 (odds ratio 0.78).
Kiryluk et al. 2014 broadened the search to 20,612 people of European and East Asian ancestry, finding 6 new genome-wide-significant loci — including ITGAM-ITGAX, VAV3, and CARD9 — and replicating 9 previously reported ones. Most of the loci were tied to inflammatory bowel disease risk or to genes maintaining the intestinal barrier and responding to mucosal pathogens, and the geographic distribution of risk alleles correlated with local helminth (parasitic worm) diversity — a striking suggestion that interaction with intestinal pathogens has shaped this disease's genetic landscape over time. This page's rs17019602, in VAV3, is one of this paper's own six new loci.
Li et al. 2015 ran a four-stage GWAS in Han Chinese, 8,313 cases and 19,680 controls, finding novel loci at ST6GAL1, ACCS, and ODF1-KLF10, alongside three independent signals within the DEFA locus. This page's rs2074038, in ACCS, matches this paper's own finding exactly (odds ratio 1.14).
IgA nephropathy is diagnosed with a kidney biopsy showing IgA deposits, not with any variant on this page. Genetic risk loci describe population-level susceptibility; they play no role in diagnosing an individual case or choosing treatment.
Clinical management of IgA nephropathy is guided by kidney function tests, urine protein levels, blood pressure, and biopsy findings — not by genotype. Nothing on this page changes how the condition is diagnosed, staged, or treated.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about IgA Nephropathy comes down to these specific, well-studied positions — not a diagnosis.
C1GALT1 · rs10238682
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IgA nephropathy is the most common form of glomerulonephritis worldwide. It occurs when immunoglobulin A builds up in the kidney's filtering structures and triggers inflammation that can damage kidney function over time.
Together they identified genetic loci in immune-region (HLA) genes, DEFA (alpha-defensin), and genes tied to intestinal-barrier function and pathogen response — with one study finding that risk-allele frequency correlates with local parasitic worm diversity.
No. IgA nephropathy is diagnosed with a kidney biopsy showing IgA deposits — not with genotype. This page describes population-level genetic risk, not a diagnostic test.
Kiryluk et al. 2014 found that many IgA nephropathy risk genes are also involved in inflammatory bowel disease and the body's response to intestinal pathogens, suggesting a historical link between gut immune biology and this kidney condition.
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