AsianScientist (Jan. 4, 2012) – Singapore and China scientists have identified new susceptibility genes for the kidney disease Immunoglobulin A Nephropathy (IgAN).
The team, led by Dr. Liu Jianjun at the Genome Institute of Singapore and Dr. Yu Xueqing at the 1st Affiliated Hospital of the Sun Yat-Sen University, have reported their results in the advance online issue of Nature Genetics on December 25, 2011.
IgAN is a kidney disease characterized by the deposit of IgA in the mesangial area of glomeruli. Disease prevalence among Asians is as high as 3.7 percent, less common in Caucasian population (up to 1.3 percent), and very rare among individuals of African ancestry.
While it is the most common cause of kidney failure among Asian populations, with 15-40 percent of the patients ending up on dialysis or requiring kidney transplants, the pathogenesis of IgAN is unclear, but both genetic and environmental factors likely contribute to its development.
To identify susceptibility genes for IgAN, the team carried out a large genome-wide association study of IgAN in a Chinese Han population of 1,434 patients and 4,270 controls. Subsequently, they investigated 61 regions of human genome for a validation study in 2,703 patients and 3,464 controls.
The researchers discovered two novel susceptibility genes,TNFSF13 on 17p13, and DEFA on 8p23, as well as several HLA alleles and haplotypes within MHC region that are associated with IgAN development.
These risk variants could also influence the clinical symptoms of IgAN patients, suggesting their important role in the development of IgAN.
“The discovery of the new disease susceptibility loci is a major breakthrough of IgAN research. It is interesting to see that some genetic variants can influence both susceptibility and clinical presentation of the disease,” Dr. Yu said.
“These findings offer us opportunities to identify important biological pathways involved in IgAN development and further explore novel approaches to intervene and thus prevent affected patients from developing severe kidney damage,” he added.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.