The impact of UCP3 and SUR1 gene SNPs on obesity and its related phenotypes in northern Han race
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DIABETES
- Issue:
- 1
- DOI:
- 10.3969/j.issn.1006-6187.2009.01.006
- Key Word:
- 肥胖;单核苷酸多态性;解偶连蛋白;磺脲类受体
Abstract： 目的 采用病例-对照研究,探讨解偶联蛋白3(UCP3)Tyr210Tyr(C→T)和磺脲类受体1[ABCC8(SUR1)]Ser1370Ala(T→G)单核苷酸多态性(SNP)与肥胖及血清脂质、FPG等肥胖相关数量表型的关系. 方法选取我国北方地区汉族人群中超重及肥胖患者(BMI≥25.0)300例;另入选300例年龄、性别匹配的正常体重者(18.5≤BMI<25.0)为对照组.测定血浆脂质和FPG等肥胖相关数量表型;并采用实时荧光定量PCR技术,检测UCP3 Tyr210Tyr(C→T)和SUR1 Ser1370Ala(T→G)多态性基因型. 结果 (1)UCP3 Tyr210Tyr(C→T)多态性基因型和等位基因频率在病例组和对照组分布无显著差异且与肥胖及其相关表型无关.(2)SUR1 Ser1370Ala(T→G)的C/C、C/T和T/T基因型及等位基因频率存女性的病例组与对照组存在差异(P<0.05),而在男性组却无统计学差异;在病例组和对照组中的分布存在差异(P<0.05),病例组TT基因型及等位基因频率高于对照组;而仅按性别分层后也未发现基因型在两组间存在差异.由单变量及多变量逐步条件logistic回归分析皆显示SUR1基因Ser1370Ala(T→G)多态性与肥胖相关(P<0.05).发现TG和GG基因型频率越高则发生肥胖的可能性越小,TT基因型则相反是肥胖发生的危险因素(ORTG=0.549;ORGG=0.486).多元线性回归分析发现:各基因型之间的生化指标除LDL-C(P<0.05)外,其余各指标无统计学差异.按病例对照分层,肥胖组的各基因型之间TG、LDL-C和Glu均值水平存在差异(P<0.05),而TC、HDL-C水平的差异无统计学意义.体重正常组各基因型之间TG、LDL-C和Glu、TC、HDL-C平均值水平的差异无统计学意义.按性别进行分层后,发现除男性各基因型的DBP、TG、LDL-C水平存在差异(P<0.05),女性各基因型的TG、TC、LDL-C水平和BMI均值存在差异(P<0.05)外,其他生化指标间的差异无统计学意义. 结论本研究资料显示:(1)在对255对中国北方地区汉族人群UCP3 Tyr210Tyr(C→T)多态性与单纯性肥胖的关联研究中未发现该SNP与肥胖及肥胖相关表型相关.(2)对256对中国北方地区汉族人群SUR1 Ser1370Ala(T→G)多态性与单纯性肥胖的关联研究中,去除多个环境因素影响,发现该SNP与肥胖相关,同时该SNP亦与肥胖相关的一些表型有统计学联系.提示该SNP或与它连锁的其他SNP可能参与中国北方地区汉族人群对肥胖的遗传易感性.
- [1]K, Irizarry,G, Hu,M L, Wong,etc.Single nucleotide polymorphism identification in candidate gene systems of obesity.[J].2001,1(3).
- [2]L G, Kostrikis,S, Tyagi,M M, Mhlanga,etc.Spectral genotyping of human alleles.[J].1998,279.
- [3]Poehlman EricT,Aston ChristopherE,Glynn NancyW,etc.Racial differences in the relation between uncoupling protein genes and resting energy expenditure.[J].2002,75(4).
- [4]Rankinen T,Chagnon YC,Snyder EE,etc.The human obesity gene map: the 2002 update.[J].2003,11(3).
- [5]E H, Hani,K, Clément,G, Velho,etc.Genetic studies of the sulfonylurea receptor gene locus in NIDDM and in morbid obesity among French Caucasians.[J].1997,46.
- [6]Kuusisto J,Karkkainen P,Laakso M,etc.Sulfonylurea receptor 1 gene variants are associated with gestational diabetes and type 2 diabetes but not with altered secretion of insulin.[J].2000,23(1).
- [7]Sun J,Teng K,Scroggin E,etc.Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1alpha genes.[J].2001,24(3).
- [8]Reitman M,Gevao SM,Brown AM,etc.Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.[J].1998,102(7).
- [9]S. Ishiyama-Shigemoto,K. Yamada,X. Yuan,etc.Clinical characterization of polymorphisms in the sulphonylurea receptor 1 gene in Japanese subjects with Type 2 diabetes mellitus[J].1998,15(10).