AsianScientist (Jul. 13, 2016) – An international research collaboration has discovered a strong genetic risk factor for IgA nephropathy (IgAN), the most common inflammatory kidney disease worldwide.
The study, published in Science Translational Medicine, was led by Professor Liu Jianjun, senior group leader of human genetics at the Genome Institute of Singapore (GIS), and Professor Yu Xueqing, director of the Institute of Nephrology at the First Affiliated Hospital of Sun Yat-sen University (SYSU) in China.
The prevalence of IgAN is higher in Asia than in Western countries, and 15-40 percent of patients will eventually progress to end-stage renal disease within 20 years of disease onset. Despite its global prevalence, the mechanisms behind IgAN are not well understood.
By investigating copy number variations (CNVs) of the alpha-defensin gene in Chinese patients with IgAN, the researchers found that a low copy number of the alpha-defensin gene increases the risk of the disease. In addition, they found that a low copy number also increases the risk of renal dysfunction in IgAN patients.
“As a major source of genetic variation, CNVs have long been suggested to play important roles in disease development, but only a few specific CNVs have demonstrated convincing evidence. This CNV contributes more genetic risk to IgAN than the cumulative effect of all the other loci we have discovered. So, this discovery is truly exciting,” said Liu.
In addition, he noted that the alpha-defensin gene may provide a potential therapeutic target against IgAN and related renal dysfunction.
The article can be found at: Ai et al. (2016) Low α-defensin Gene Copy Number Increases the Risk for IgA Nephropathy and Renal Dysfunction.
Source: Genome Institute of Singapore; Photo: Shutterstock.
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