Scientists find autoimmune disease genes

By Ding Changming (China Daily)
Updated: 2009-10-28 10:46

Chinese researchers have identified several new genes that play an important role in the development of systemic lupus erythematosus (SLE), a common autoimmune disease, according to a new study published by Nature Genetics.

The study was led by Zhang Xuejun, a professor at the Institute of Dermatology at No 1 Hospital, Anhui Medical University, who worked with researchers from the Chinese National Human Genome Center and Huashan Hospital of Fudan University in Shanghai.

SLE is a chronic autoimmune connective tissue disease that can affect any part of the body including the joints, skin, lungs, heart, blood vessels, liver, kidneys, and nervous system.

The disease severely impairs the quality of life of patients, and is found predominantly in women (nine times more often than in men) particularly during childbearing years. It is estimated that more than 1 million people suffer from SLE in China.

Scientists believe that lupus is caused by genetic risk factors that interact with each other, and with environmental ones.

Zhang and his team studied more than 12,000 samples of Chinese people. They found strong associations within five genes -ETS1, IKZF1, RASGRP3, SLC15A4 and TNIP1 - and other four regions of the human genome. All the five genes are involved in immune response, which can help explain the development of SLE.

Further study is needed to understand their exact role in SLE, according to Zhang.

The study has also confirmed seven other genes previously reported in European populations.

"This discovery points to the role of several genes in the immune responses that result in SLE and highlights the importance of immunity in the pathogenesis of SLE," says Zhang. "Some of the genes are involved in the pathways related to SLE development and may be novel targets for developing new treatment for the disease."

As the first study of its kind in Asia, Zhang and his team also compared their results with the ones from European populations, and found some disparities, which suggest genetic heterogeneity of SLE between the two ethnic populations and presents an outline for the genetic spectrum of SLE.