Glomerular disease

Copy number variants increase the risk of IgAN

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.

References

  1. 1

    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)

Download references

Authors

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Carney, E. Copy number variants increase the risk of IgAN. Nat Rev Nephrol 12, 510 (2016). https://doi.org/10.1038/nrneph.2016.118

Download citation