A collaborative team consisting of researchers from Tata Memorial Centre, Tata Memorial Hospital, Sanjay Gandhi Postgraduate Institute of Medical Sciences, St Jude Children's Research Hospital, Bloomberg School of Public Health, National Institutes of Health, and Johns Hopkins University now has identified several genetic variants that seem to increase the risk of gallbladder cancer, a relatively rare but highly lethal disease. Their paper “Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study" was published 5 March 2017 in Lancet Oncology. The study would help explain why some people are far more susceptible to gallbladder cancer. Gallbladder cancer is a multifactorial disease involving combinations of multiple genetic variants. The disease is relatively rare, but in certain countries and regions of the world, its incidence is much higher. In fact, there are significant differences in incidence by geography and ethnic background. For example, Native Americans in North America are more likely than other ethnic groups to develop gallbladder cancer. The aim of this study is to identify genetic variants that could increase the risk of gallbladder cancer. Study co-leader Preetha Rajaraman and co-workers examined blood samples from 1,042 gallbladder cancer patients and 1,709 healthy controls, both of Indian descent. With the help several advanced technologies, they identified genome-wide significant associations for several DNA variants in the chromosomal region harboring the ABCB1 and ABCB4 genes. The two genes, ABCB1 and ABCB4, are involved in the transport of lipids through the liver, gallbladder and bile ducts. Earlier studies have suggested that defective ABCB4 leads to reduced lecithin secretion and stone formation. Gallstone is considered a risk factor for gallbladder cancer. Although people with gallstones rarely develop gallbladder cancer, more than three-quarters of patients with gallbladder cancer have gallstones when diagnosed. This study provides the first evidence that common gene variants in the ABCB1/ ABCB4 region may confer gallbladder cancer risk, regardless of whether or not a person has gallstones. "This finding, along with in-silico and biological evidence indicating the potential functional significance of ABCB1 and ABCB4, underlines the likely importance of these hepatobiliary phospholipid transporter genes in the pathology of gallbladder cancer," the researchers concluded. Gallbladder cancer is highly lethal in part because the disease is often discovered at its late stages. The prognosis of patients is poor, with 5-year survival rates of 15-20%. This study may help to develop better therapies. Cusabio offers you high quality ABCB1 and ABCB4 related proteins and other products like Recombinant CDHR4.
