ATP结合盒转运体A1基因多态性与2型糖尿病及肥胖的相关性

目的 研究上海地区汉族人群中，ATP结合盒转运体Al（ABCAl）基因位点rs2020927的单核苷酸多态性与2型糖尿病（T2DM）及肥胖发病的相关性。方法 选取上海地区无亲缘关系的T2DM患者440例，根据体质量指数（BMI）分为肥胖组（n=252，BMI〉25kg／m^2）和正常体质量组（n=188，BMI〈25kg／m^2）；另选取正常对照者315例。采用等位基因特异的实时PCR，对ABCAl基因位点rs2020927进行基因分型，并通过相关和Logistic回归分析，研究该位点与T2DM及肥胖的相关性。结果 ABCAl基因rs2020927位点基因型频率在不同组间有显著性差异（P=0．001），其中AA、AG、GG基因型频率在对照组人群中分别为43．8％、35．9％和20.3％；在正常体质量的T2DM组中分别为33％、53．2％和13．8％；在肥胖的T2DM组中分别为40．9％、47．2％和11．9％。基因型GG在T2DM肥胖组和对照组中有显著性差异（P=0．009），而T2DM正常体质量组和对照组之间无显著性差异（P〉0．05）。结论 中国上海汉族人群中，ABCAl基因多态性位点rs2020927可能与T2DM及肥胖的发病相关。

Association of Single Nucleotide Polymorphism in ATP-Binding Cassette Transporter 1 Gene with Type 2 Diabetes Mellitus and Obesity

Objective To study the association of ATP-binding cassette transporter 1(ABCA1) gene polymorphism with type 2 diabetes and obesity in Chinese Han population living in Shanghai. Methods Four hundred and forty patients with type 2 diabetes mellitus and 315 normal control subjects were enrolled in the study.Diabetic patients were further divided into normal weight patients(n=188,BMI<25 kg/m~(2)) and obese patients(n=252,BMI>25 kg/m~(2)).A single nucleotide polymorphism(SNP) rs2020927 was chosen and allele-specific real-time PCR method was employed to identify the loci genotype in all the subjects. Results The distribution of genotype frequency of the loci rs2020927 of ABAC1 was significantly different between the groups of type 2 diabetes and normal controls(P=0.001).The frequency of AA,AG,GG genotype was 43.8%,35.9% and 20.3%,respectively in the control group,and 33%,53.2% and 13.8%,respectively in the normal-weight diabetic group,and 40.9%,47.2% and 11.9%, respectively in the obese diabetic group.The frequency of genotype GG was significantly diffe-(rent) between the control group and obese diabetic group(P=0.009),while no significant difference was found between the control group and normal-weight diabetic group(P>0.05). Conclusion The SNP rs2020927 of ABCA1 gene may be associated with type 2 diabetes mellitus and obesity in Chinese Han population(living in Shanghai.)