ArticleGenes and immunity
DEFA gene variants associated with IgA nephropathy in a Chinese population.
Article in Genes and immunity. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Association Between HLA Alleles and IgA Nephropathy in a Taiwanese Population.International journal of molecular sciences · 2026Article
- Aberrant signaling in tonsillar B cells producing pathogenicFrontiers in immunology · 2026Review
- Aberrantly Glycosylated IgA1 in IgA Nephropathy: What We Know and What We Don't Know.Journal of clinical medicine · 2021Review
- CMIP SNPs and their haplotypes are associated with dyslipidaemia and clinicopathologic features of IgA nephropathy.Bioscience reports · 2020Article
- Formalin-fixed paraffin-embedded renal biopsy tissues: an underexploited biospecimen resource for gene expression profiling in IgA nephropathy.Scientific reports · 2020Article
- Upregulated Expression of Intestinal Antimicrobial Peptide HD5 Associated with Renal Function in IgA Nephropathy.Disease markers · 2020Article
- Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.Science (New York, N.Y.) · 2019Article
- Elevated Plasma α-Defensins (HNP1-3) Levels Correlated with IgA1 Glycosylation and Susceptibility to IgA Nephropathy.Disease markers · 2016Article
- The Genetics of IgA Nephropathy: An Overview from China.Kidney diseases (Basel, Switzerland) · 2015Review
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IgA nephropathy (IgAN) is a complex syndrome with high genetic heterogeneity. More recently, a genome-wide association study (GWAS) from Southern Han population revealed that variants within 8p23.1, where the DEFA genes encoding a-defensins assembled, were associated with susceptibility to IgAN. To replicate the association and fine-map the genetic variants, a case-control genetic study from an independent Northern Han cohort was conducted. A total of 60 single-nucleotide polymorphisms in a region spanning 350 kb encompassing the DEFA genes cluster were analyzed in 2096 individuals. Copy number variations of DEFA1A3 within the loci were also checked for the independent association. Functional significance of the associated variants was further examined by the in silico method as well as by cis-acting expression quantitative trait loci analysis with mRNA. It showed that 17 out of 60 (28.3%) variants were associated with susceptibility to IgAN. Two independent signals with functional potentials were discovered (rs2738058, P=4.64 × 10(-5), odds ratio (OR)=0.76, 95% confidence interval (CI) 0.66-0.87 and rs9644778, P=4.78 × 10(-3), OR=1.21, 95% CI 1.06-1.39). Besides, marginally significant association of rs9644778 risk genotype with lower proportion of gross hematuria (CC+CA vs AA 35.2% vs 30.2%, P=0.073) was observed. In conclusion, DEFA gene polymorphisms have potentially pathogenic roles in IgAN, and the role of mucosal immunity in the pathogenesis of IgAN has to be emphasized.
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