ArticleHuman genetics2014
Polymorphism of DEFA in Chinese Han population with IgA nephropathy.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- Functional variant rs12614 inFrontiers in immunology · 2022Article
- Formalin-fixed paraffin-embedded renal biopsy tissues: an underexploited biospecimen resource for gene expression profiling in IgA nephropathy.Scientific reports · 2020Article
- Identification of susceptibility locus shared by IgA nephropathy and inflammatory bowel disease in a Chinese Han population.Journal of human genetics · 2020Article
- Upregulated Expression of Intestinal Antimicrobial Peptide HD5 Associated with Renal Function in IgA Nephropathy.Disease markers · 2020Article
- Plasma levels of alarmin HNPs 1-3 associate with lung dysfunction after cardiac surgery in children.BMC pulmonary medicine · 2017Article
- Study of correlation between polymorphism of ST6GALNAC2 and susceptibility to IgA nephropathy.Experimental and therapeutic medicine · 2015Article
- 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.
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Abstract
Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these genes associated with the disease susceptibility. The aim of this study is to investigate the polymorphisms of DEFA genes in the susceptibility to IgAN and explore possible disease mechanisms. Sixteen tag single-nucleotide polymorphisms (tag SNPs) were selected for association study in 1,000 IgAN cases and 1,000 controls by using Sequenom MassArray system or TaqMan SNP genotyping assays. We found seven SNPs within DEFA genes that were significantly associated with IgAN, including rs2738048 discovered in our previous GWAS (p = 0.0007, OR = 0.77) and additional 6 SNPs (rs2615787, p = 0.0001, OR = 0.74; rs2738081, p = 0.0003, OR = 0.72; rs2738058, p = 0.0001, OR = 0.73; rs4288398, p = 0.0008, OR = 0.78; rs6984215, p = 0.002, OR = 0.63; rs12716641, p = 0.00002, OR = 0.71). Electrophoretic mobility shift assays and luciferase assays demonstrated that fragments containing rs2738048, rs2738081 and rs6984215 were transcription factor binding sites for CTF, SP1 and CdxA, respectively, and the allele status of rs2738048 and rs6984215 could significantly change the luciferase activity. These results suggest that polymorphisms within DEFA genes are involved in gene transcriptional regulation, and this may have some effect in mediating susceptibility to IgAN in southern Chinese.
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