publication . Article . 2016

Low alpha-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction

Ai, Zhen.; Li, Ming.; Liu, Wenting.; Foo, Jia-Nee.; Mansouri, Omniah.; Yin, Peiran.; Zhou, Qian.; Tang, Xueqing.; Dong, Xiuqing.; Feng, Shaozhen.; ...
Open Access English
  • Published: 29 Jun 2016
  • Publisher: American Association for the Advancement of Science
Abstract
IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Although a major source of genetic variation, copy number variations (CNVs) and their involvement in disease development have not been well studied. Here, we performed association analysis of the DEFA1A3 CNV locus in two independent IgAN cohorts of Southern Chinese Han (total1189 cases and 1187 controls). We discovered three independent copy number associations within the locus: DEFA1A3 (P=3.99×10-9, OR=0.88), DEFA3 (P=6.55×10-5, OR=0.82) and a noncoding deletion variant (211bp) (P=3.50×10-16, OR=0.75) (OR per copy, fixed-effects meta-analysis). While showing strong association with ...
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publication . Article . 2016

Low alpha-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction

Ai, Zhen.; Li, Ming.; Liu, Wenting.; Foo, Jia-Nee.; Mansouri, Omniah.; Yin, Peiran.; Zhou, Qian.; Tang, Xueqing.; Dong, Xiuqing.; Feng, Shaozhen.; ...