内皮固有型一氧化氮合酶基因单核苷酸多态性与2型糖尿病的相关性

目的探讨内皮固有型一氧化氮合酶（endothelial constitutive nitric oxide synthase,ecNOS）基因的单核苷酸多态性（single nucleotide polymorphism,SNP）与2型糖尿病（type 2 diabetes mellitus,T2DM）的相关性。方法提取210例T2DM患者和196例健康对照者外周血有核细胞DNA,应用荧光标记单碱基延伸分型技术及寡核苷酸微阵列芯片杂交技术检测ecNOS基因的2个标签SNP（tagSNP）rs7830和rs3918188。结果 T2DM组rs7830的CC基因型频率和C等位基因频率明显低于健康对照组（P〈0.05）。两组rs3918188的基因型频率及等位基因频率无统计学差异（P〉0.05）。通过对2个SNP进行单倍型构建分析发现,T2DM组和健康对照组的单倍型频率无统计学差异（P〉0.05）。结论 ecNOS基因rs7830多态性变异是T2DM的遗传危险因素。

Correlation between Single Nucleotide Polymorphisms in Endothelial Constitutive Nitric Oxide Synthase Gene and Type 2 Diabetes Mellitus

Objective To investigate the correlation between single nucleotide polymorphism （SNP） of endothelial constitutive nitric oxide synthase （ecNOS） and type 2 diabetes mellitus （T2DM）.Methods DNA samples of peripheral blood white cells were extracted from 210 patients with T2DM and 196 healthy individuals.Tag SNPs of rs7830 and rs3918188 mutations in the ecNOS gene were analyzed with allele-specific fluorogenic oligonucleotide probes in an assay combining the polymerase chain reaction （PCR） and hybridization.Results The CC genotype and C alleles frequencies of rs7830 of T2DM group were obviously lower than those of control group （P0.05）.The frequencies of the genotypes and alleles of rs3918188 were not significantly different between two groups （P0.05）.The haplotypes of rs7830 and rs3918188 were constructed and the frequencies of haplotypes were not significantly different between two groups （P0.05）.Conclusion Rs7830 mutations in the ecNOS gene might be a genetic risk factor for T2DM.