SUR1基因多态性与胰岛β细胞功能相关性家系研究

Family Study of Correlation between Polymorphism of Sulfonylurea Receptor 1 and Function of Pancreatic β cells

目的 通过对上海地区 2型糖尿病家系SUR1基因多态性的研究 ,探讨SUR1基因对胰岛β细胞功能影响。方法 上海地区 2型糖尿病家系 5 5个 ,共 2 5 3人。选定SUR1基因 2个多态性位点 ,运用PCR -RFLP方法对每位入选者均进行基因型分析并经测序证实。测定空腹C肽及胰岛素判断胰岛 β细胞功能 ,并测定体重指数、血压等生理指标及总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、甘油三酯等临床指标。结果 (1 )空腹C肽 :1 6号外显子c/t基因型、t/t基因型高于c/c基因型 ,差异存在显著性 ;31号外显子G/A +A/A基因型低于G/G基因型 ,差异存在显著性 ;G/A +A/A +c/c组低于G/G +c/c组 ,差异存在显著性。 (2 )空腹胰岛素 :1 6号外显子 - 3c→t多态性tt纯合子明显高于cc纯合子 ,而 31号外显子AGG→AGA多态性则差异无显著性。结论 SUR1基因的多态性和突变对胰岛β细胞功能有一定影响。 1 6号外显子t等位基因携带者空腹C肽较cc纯合子升高。 31号外显子A等位基因携带者空腹C肽较非携带者低。 1 6号外显子tt纯合子空腹胰岛素明显高于cc纯合子。

Objective To investigate the effectiveness of the variance in sulfonylurea receptor 1 gene on the function of pancreaticβcells in type 2 diabetic families in Shanghai.Methods Fifty-five type 2 diabetes mellitus families,totally 253 persons were included.Two popular single nucleotide polymorphisms (SNPs) of SUR1 were analyzed.The genotype of everyone involved was determined by PCR-RFLP and identified by sequencing.The function of pancreatic β cell was estimated by the concentration of fasting C-peptide and fasting insulin.BMI,blood pressure,cholesterol,HDL-C,LDL-C and triglyceride were measured at the same time.Results (1) The levels of fasting C-peptide of c/t and t/t genotype of exon 16 were higher than c/c genotype.The levels of fasting C-peptide of G/A+A/A genotype of exon 31 was lower than G/G genotype and G/A+A/A combining with c/c genotype was lower than G/G combining with c/c genotype.(2) The level of fasting insulin of tt homozygote of exon 16 was significantly higher than cc homozygote.Conclusion The variance in sulfonylurea receptor 1 gene was associated with the function of pancreatic β cells.The concentrations of fasting C-peptide of t allele carriers were higher than c/c homozygote of exon 16.The concentration of fasting C-peptide of A allele carriers were lower than other genotypes of exon 31.The fasting insulin level of tt homozygote of exon 16 was significantly higher than cc homozygote.