Dr. Hongmei WANG’s group discovered four nonsynonymous SNPs in SERPINA6 gene encoding corticosteroid-binding globulin (CBG): CBG R64Q, CBG R64W, CBG A51V and CBG E102G. The CBG A51V variant has a surprisingly high frequency of 1:37, and plasma CBG levels in individuals heterozygous for this variant are ~50% lower than normal. In vitro biochemistry studies showed that CBG A51V bound steroid normally but its production/secretion was severely impaired. The high frequency of CBG A51V will allow clinical consequences of CBG deficiencies to be assessed for the first time in large patient populations in China. The above finding has been published in The Journal of Clinical Endocrinology and Metabolism in 2012. This work was accomplished under the collaboration with Prof. Geoffrey Hammond in the University of British Columbia, and supported by the National Key Basic Research Program of China, a grant from National Natural Science Foundation of China, the Knowledge Innovation Program of Chinese Academy of Sciences and an operating grant from the Canadian Institutes of Health Research.
more...