Low copy numbers of three variants in the α-defensin gene locus (DEFA1A3) are associated with an increased risk of IgA nephropathy (IgAN) as well as with renal dysfunction and increased serum levels of IgA1 and galactose-deficient IgA1 in patients with this disease, say researchers. Ai et al. identified these variants in two independent southern Han Chinese cohorts and confirmed their findings in a Caucasian cohort. They report that copy number variation in the DEFA1A3 locus explains 4.96% of disease risk in patients with IgAN, so might be a potential target for therapy.
Ai, Z. et al. Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction. Sci. Transl. Med. http://dx.doi.org/10.1126/scitranslmed.aaf2106 (2016)
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Carney, E. Copy number variants increase the risk of IgAN. Nat Rev Nephrol 12, 510 (2016). https://doi.org/10.1038/nrneph.2016.118