Studies On Genetic Association Between ACE And INSR Gene Polymorphisms And Type 2 Diabetes In Han Chinese In Hubei

Background: Type 2 diabetes mellitus (T2DM) is a metabolic disease in which hyperglycemia is caused by insulin resistance and defects in islet beta cell insulin secretion. T2DM is a complex, polygenic disease that results from the interplay of genetic and environmental factors. T2DM is under strong genetic control. Identifying and characterizing genes involved in determining T2DM will contribute to a greater understanding of the pathogenesis of T2DM at the molecular level, and development of strategies for the early prediction, prevention, diagnosis and treatment. This would play an important significance in raising our people's health status and improving their quality of life.Objective: To investigate the association between insertion/deletion (I/D) polymorphism of intron 16 in angiotensin-converting enzyme (ACE) gene and Nsi I polymorphism of exon 8 in insulin receptor (INSR) gene and T2DM in Han Chinese in Hubei at the molecular level.Research designs: Both sib-pairs (within-family control) and random case- control designs were used.Methods:(1) The I/D polymorphism in the ACE gene was analyzed using polymerase chain reaction (VCR) in 250 subjects, including 161 T2DM patients (84 males, 77 females) and 89 controls (50 males, 39 females), among which 60 sib-pairs of patients and controls were included. Genotypic and allelic frequencies were compared between cases and controls. Height, weight, waist circumference, hip circumference, blood pressure and fasting blood glucose were measured, and the body mass index (BMI) and waist to hip ratio (WHR) were calculated in all subjects. All subjects were divided into three groups: all T2DM patients and controls, sib-pairs of patients and controls, T2DM patients and unrelated controls. (2) The INSR gene exon 8 Nsi I polymorphism was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 224 subjects with 52 sib-pairs of patients and controls and genotypic and allelic frequencies were compared. (3) Independent-sample t test was used to compare means between two groups, while paired-sample t test was used for sib-pairs means comparison. ANOVA was employed to compare the differences of clinical...