UCP2基因与SREBP1c基因多态性与腹型肥胖的关联研究

An association study of abdominal obesity and polymorphisms of UCP2 and SREBP1c genes

目的:在2型糖尿病家系人群中探讨UCP2基因-866A/G、SREBP1c基因54G/C多态性与腹型肥胖的关联。方法:应用遗传流行病学家系研究方法,收集2型糖尿病先证者并追踪其同胞与父母,对所有收集到的研究对象(包括先证者、同胞、父母)进行问卷调查、常规体检、血清学检测与基因型鉴定。用广义估计方程(generalizedestimating equation,GEE)进行多因素的回归分析与效应强度的估计。结果:募集到284个2型糖尿病家系,共762名研究对象。UCP2-866A/G多态性等位基因A的频率为0.459,等位基因G的频率为0.541。SREBP1c 54G/C多态性等位基因G的频率为0.822,等位基因C的频率为0.178。GEE回归分析显示,UCP2-866A/G的突变型(AG/GG)与腹型肥胖有关,OR值为1.8(P=0.042);SREBP1c 54G/C的突变型(GC/CC)与腹型肥胖的关联无统计学意义;当以上两个多态性位点同时为突变型时,OR值为3.2(P=0.001)。结论:在2型糖尿病家系人群中,单纯UCP2-866A/G多态性为突变型基因型可能是腹型肥胖的危险因素,SREBP1c 54G/C与UCP2-866A/G两个基因多态性均为突变型基因型时,个体患腹型肥胖的风险显著增加。

Objective ：To investigate the association of-866A/G polymorphism of uncoupling protein 2 （UCP2） gene, and 54G/C polymorphism of sterol regulatory element binding protein lc （SREBPIc） gene with abdominal obesity in the population of type 2 diabetes mellitus families. Methods： Eligible type 2 diabetes mellitus cases from newly diagnosed and previous hospitalized patients were choson, then their family members （ siblings and parents） tracked. A set of questionnaires was administered to obtain information on demographic characteristics. Physical measurements were recorded. DNA was extracted from blood samples and genotyped using polymerase chain reaction with restriction fragment length poly- morphism （PCR-RFLP）. Generalized estimating equation （GEE） was used to adjust for within-family correlation in analysis of relationships of factors. Results： In the study population, the frequency of A al- lele of UCP＇2-866A/G polymorphism was 0. 459, and of G allele 0. 541 ; the frequency of G allele of SREBP1 c 54G/C polymorphism was 0. 822, and of C allele 0. 178. Totally 762 participants were ana- lyzed using GEE regression. It was shown that the odds ratio （OR） of the population with only 54G/C polymorphism of SREBPlc gene being the mutant type （GC/CC） was statistically significant while -866A/G polymorphism of UCP2 gene not being the mutant type （AG/GG） was not. The OR of the population with the opposite genotype status was 1.8 （P = 0. 042）, and that with mutant types of both polymorphisms 3.2 （ P=0. 001 ）. Conclusion： In the population of type 2 diabetes mellitus families, only 54G/C polymorphism of SREBPI c gene being the mutant type （GC/CC） might be a moderate risk factor of abdominal obesity. When both the two polymorphisms studied are the mutant type, me risk of, abdominal obesity may increase significantly.