TXNIP Gene Single Nucleotide Polymorphisms Associated with the Risk of Type 2 Diabetes Mellitus in a Chinese Han Population.

Abstract

Thioredoxin-interacting protein (TXNIP) plays important roles in the pathogenesis of type 2 diabetes mellitus (T2DM). This study was aimed to investigate the association between T2DM and polymorphisms of TXNIP genes in a Chinese Han population. To our knowledge, there were no studies on this aspect in China. In our research, genotyping was performed by direct sequencing in 161 T2DM patients and 146 healthy controls. The relationships between the genotypes of single nucleotide polymorphism and serum-specific clinical variables were analyzed. TXNIP protein expression was detected by western blotting. We found that the frequencies of G allele, the CG, and CG/GG genotypes of TXNIP rs7212 were all significantly higher in T2DM patients than the controls. G allele, CG, and CG/GG genotypes of rs7212 were associated with a higher risk of T2DM. Furthermore, the CG and CG/GG genotypes of rs7212 in T2DM patients with a longer duration of disease were more frequent compared with the CC genotype diabetes. For rs7212, T2DM patients with higher glucose (GLU) level or/and HbA1c level more frequently carried G allele. In addition, the protein level of TXNIP in the peripheral leukocytes with T2DM was significantly higher than in the controls. Our study indicates that the TXNIP polymorphisms are associated with the susceptibility to T2DM in a Chinese Han population from central China.