乙酰辅酶A羧化酶β基因多态性与2型糖尿病易感性关系的初步研究

Association of acetyl-CoA carboxylase gene polymorphism with Chinese type 2 diabetes

目的研究上海地区汉族人群中乙酰辅酶A羧化酶β(ACC-β)的2个单核苷酸多态性(SNP)位点与2型糖尿病(T2DM)易感性的关系。方法采用等位基因专一性实时PCR的方法对上海地区438例T2DM患者及328名正常对照者(NC)ACC-β基因的2个SNP位点进行分析。结果(1)ACC-β基因16号内含子区存在SNP位点I16/73C>T,T2DM组和NC组两组间基因型频率比较,差异有统计学意义(P=0.031)。且CC型+CT型与TT型的分组比较在两组间的差异也有统计学意义(P=0.027)。(2)ACC-β基因16号内含子区还存在另一SNP位点:I16/288A>G,T2DM组G等位基因的频率高于NC组,但无统计学意义。结论在上海地区的汉族人群中,ACC-β基因可能是T2DM的易感基因之一,其16号内含子区的I16/73C>T多态性(rs2268393)可能与T2DM的发病相关。

Objective The aim is to study the association of single nucleotide polymorphism （SNP） of the acetyl-CoA carboxylase-beta gene with Chinese type 2 diabetes. Methods Two SNPs located in this gene were chosen from public SNP domain by bioinformatic methods and real-time allele-specific PCR method was used to genotype the loci in 439 type 2 diabetics and 328 normal control subjects. Results （1） There was a SNP in the intron region （I16/73 C〉T）. The genotype frequen- cy and the ratio of CC＋CT/TT of this SNP were all significantly different between type 2 diabetes and normal control （P=0. 031 and P=0. 027, respectively）. （2） There was another SNP also in the intron region （I16/288 A〉G）. But the genotype frequency and allele frequency of this SNP were all not significantly different between type 2 diabetes and normal control （P〉0.05）. Conclusions The data implicate that the ACC-beta （I16/73 C〉T） polymorphism may be associated with the pathogenesis of type 2 diabetes in eastern Chinese population.