What is the role of genetics in the etiology of immunoglobulin A (IgA) nephropathy?

Updated: Feb 15, 2018
  • Author: Sohail Abdul Salim, MD, FASN, FACP; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Although IgA nephropathy is usually a sporadic disease, data suggest that genetic factors are important in susceptibility to development of mesangial glomerulonephritis. Several cases of familial disease have been reported in Italy and the United States, and an autosomal dominant form has been linked to band 6q22-23. [18] Additionally, increased frequency of specific HLA groups has been reported in some patients.

Ai and colleagues reported increased risk for IgA nephropathy in association with low copy number of the α-defensin gene (DEFA1A3). Low total copy numbers also showed significant association with renal dysfunction in patients with IgA nephropathy. [19] Single-nucleotide polymorphisms (SNPs) of the enabled homolog gene (ENAH) have been associated with increased susceptibility to childhood IgA nephropathy, as well as to the development of proteinuria and gross hematuria, and pathological progression in children with the disease. [20]


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