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目的探讨脂联素基因rs2241766(T45G)和rs15011299(G276T)多态性位点(SNP)与中国大城市汉族老年人代谢综合征(MS)的相关性。方法根据国际糖尿病联盟(IDF)的MS定义,从2002年营养与健康状况调查对象中选取大城市60岁以上汉族老年人,分为MS组和正常对照组,共907人。检测这些研究对象血浆脂联素和胰岛素浓度,提取全血基因组DNA,采用Taqman方法检测所有研究对象脂联素基因rs2241766(T45G)和rs15011299(G276T)位点的基因型。并分析各SNP位点基因型与MS的相关性。结果 rs15011299的三种基因型在MS组和正常对照组间的总体分布差异有显著性,MS组T等位基因频率显著高于正常对照组。在rs15011299位点,GG、GT、TT三组基因型的研究对象的BMI、脂联素浓度差异有显著性,GG+GT型研究对象的BMI、腰围、血浆胰岛素浓度显著低于TT型研究对象,而血浆脂联素浓度显著高于TT型研究对象;在rs2241766位点,TT、TG、GG三组基因型的研究对象间BMI及舒张压差异有显著性,TT型研究对象BMI、腰围及舒张压显著高于TG+GG型研究对象。logistic回归分析显示rs15011299TT型研究对象与GG型研究对象相比发生MS的风险高,其校正的OR值为3.19(1.31,7.78)。结论脂联素基因rs15011299位点的变异可能与MS相关,G→T突变可能增加MS的发生,使腰围、BMI增加,并降低血浆脂联素水平。
Objective To investigate the association of adiponectin gene rs2241766 (T45G) and rs15011299 (G276T) polymorphisms with metabolic syndrome (MS) in Han Chinese elderly in China. Methods According to the definition of MS of IDF, 90 elderly were randomly selected from the survey of nutrition and health status in 2002 in big cities over the age of 60 and divided into MS group and normal control group. Plasma adiponectin and insulin concentrations were measured in these subjects. Whole genomic DNA was extracted. Taqman method was used to detect genotypes of adiponectin gene rs2241766 (T45G) and rs15011299 (G276T) in all subjects. The genotypes of each SNP were analyzed for the association with MS. Results There was significant difference in the overall distribution of rs15011299 genotype between MS group and normal control group. The frequency of T allele in MS group was significantly higher than that in normal control group. At rs15011299, BMI and adiponectin concentrations were significantly different among the GG, GT and TT genotypes. The BMI, waist circumference and plasma insulin concentrations of the GG + GT subjects were significantly lower than those of the TT subjects , While plasma adiponectin concentrations were significantly higher than those of TT type. There was significant difference in BMI and diastolic blood pressure among subjects with genotype TT, TG and GG at rs2241766. There was no significant difference in BMI, waist circumference, Diastolic blood pressure was significantly higher than TG + GG type of study. Logistic regression analysis showed that patients with rs15011299TT had a higher risk of developing MS than those with GG, with a corrected OR of 3.19 (1.31, 7.78). Conclusion The mutation of rs15011299 in adiponectin gene may be associated with MS. G → T mutation may increase the incidence of MS, increase waist circumference and BMI, and decrease plasma adiponectin level.