Article
Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.
Science translational medicine - 29 Jun 2016
Ai Zhen, Li Ming, Liu Wenting, Foo Jia-Nee, Mansouri Omniah, Yin Peiran, Zhou Qian, Tang Xueqing, Dong Xiuqing, Feng Shaozhen, Xu Ricong, Zhong Zhong, Chen Jian, Wan Jianxin, Lou Tanqi, Yu Jianwen, Zhou Qin, Fan Jinjin, Mao Haiping, Gale Daniel, Barratt Jonathan, Armour John A L, Liu Jianjun, Yu Xueqing
Abstract excerpt
Although a major source of genetic variation, copy number variations (CNVs) and their involvement in disease development have not been well studied. Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. We performed association analysis of the DEFA1A3 CNV locus in two independent IgAN cohorts of southern Chinese Han (total of 1189 cases and 1187 controls). We discovered...
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