662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

Abstract

The aim of this paper is to report a new coding variance of the TNFRSF9 gene, a candidate for autoimmune diseases. We found the variation in two families with type 2 diabetes mellitus by D-HPLC mutation screening method and confirmed our results by direct sequencing and PCR-RFLP. Although without changing the amino acid coding, the variance may have an effect on codon usage and play a role in disease development, such as type 2 diabetes mellitus. However, we cannot define the role of this variance because the frequency of the minor allele is low in the Chinese population and no homozygote of the variance was found. More research in multiple populations will be necessary to define the role of this variance.

Keywords

diabetes mellitus / single nucleotide polymorphism / TNFRSF9 gene / antigens, CD137 / immune regulation