A Common Polymorphism of Upstream Transcription Factor 1 Gene is associated with Lipid Profile: A Study in Chinese Type 2 Diabetes Families

Upstream transcription factor 1 (USF1) is capable of controlling various members in glucose and lipid metabolism pathways. Much evidence suggests that the rs3737787 polymorphism in the USF1 gene may lead to alteration of lipid metabolism. The objective of this study was to test the association between rs3737787 and type 2 diabetes mellitus (T2DM) and its related lipid metabolic traits in the Chinese population. A total of 287 eligible T2DM families were chosen in Beijing. A set of questionnaires was administered to obtain information on demographic characteristics. Physical measurements were recorded. DNA was extracted from blood samples and genotyped using PCR-RFLP method. Statistical analyses including linkage analysis and family-based association test were performed to detect the relationship between rs3737787 and T2DM related traits. In the non-parametric linkage analysis, it was observed that rs3737787 is potentially linked with triglyceride and apolipoprotein E levels, where the logarithm of the odds scores were 0.87 (p=0.02) and 1.96 (p=0.001), respectively. Similar results were obtained in the multi-factorial generalized estimating equation analysis. Using different statistical approaches, in this study, we have confirmed that the single nucleotide polymorphism rs3737787 is related to triglyceride and apolipoprotein E levels in type 2 diabetes mellitus families.