Article
Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.
Annals of human genetics - 1 Mar 2023
Shwan Nzar A A, Moise Eric C, Necsoiu Paula E, Farr Amy J, Gale Daniel P, Barratt Jonathan, Armour John A L
Abstract excerpt
BACKGROUND: Immunoglobulin A (IgA) nephropathy is a disorder of the immune system affecting kidney function, and genome-wide association studies (GWAS) have defined numerous loci with associated variation, all implicating components of innate or adaptive immunity. Among these, single nucleotide polymorphisms (SNPs) in a region including the multiallelic copy number variation (CNV) of DEFA1A3 are associated with...
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