| 修良昌,刘伟伟,周善存,林美华,欧阳平,覃继恒,赵小蕾,孔丹莉,饶绍奇,丁元林.儿茶酚胺氧位甲基转移酶基因单核苷酸多态性与2型糖尿病的关联研究[J].中华流行病学杂志,2014,35(2):190-194 |
| 儿茶酚胺氧位甲基转移酶基因单核苷酸多态性与2型糖尿病的关联研究 |
| Study on the association between catechol-O-methyltransferase gene polymorphisms and type 2 diabetes mellitus |
| 收稿日期:2013-08-27 出版日期:2014-09-17 |
| DOI：10.3760/cma.j.issn.0254-6450.2014.02.020 |
| 中文关键词: 糖尿病，2型 儿茶酚胺氧位甲基转移酶 多态性，单核苷酸 |
| 英文关键词: Type 2 diabetes mellitus Catechol-O-methyltransferase Polymorphism, single |
| 基金项目:国家自然科学基金（81273166）；广东省自然科学基金（S2012010008271）；东莞市科技计划项目（2012105102010）；湛江市科技攻关计划项目（2012C3103012）；广东医学院重点学科项目（XZ1105） |
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| 中文摘要: |
| 目的 探讨儿茶酚胺氧位甲基转移酶（GOMT）基因的单核苷酸多态性（SNP）与广东地区汉族人群T2DM的关联性。方法 采用SNPscanTM多重SNP分型试剂盒，在595例T2DM患者（病例组）和725名健康对照（对照组）中对筛选的2个tagSNP（rs4646312、rs4680）进行基因分型，并应用X2检验、logistic回归模型等方法分析SNP位点与T2DM的关联性。结果 病例组rs4646312的TT、CT、CC基因型频数分别为304（51．1％）、234（39．3％）、57（8．6％），对照组分别为323（44．6％）、319（44．0％）、83（11．4％）；病例组rs4680位点的GG、GA、AA基因型频数分别为311（52．4％）、236（39．8％）、46（7．8％），对照组分别为417（57．7％）、265（36．6％）、41（5．7％）。校正性别、BMI和TG等因素后，rs4646312在等位基因关联分析和基因型关联分析（隐性模型）中的差异均有统计学意义[P值分别为0．020、0．022，OR值（95％CI）分别为1．26（1．04～1．53）、1．35（1．05～1．74）]，而rs4680的差异均无统计学意义（等位基因关联分析P=0．099，显性模型下基因型关联分析P=0．081）。rs4680与BMI有关联。结论 在广东地区汉族人群中，COMT基因的rs4646312位点与T2DM的遗传易感性有关，而rs4680与T2DM则无关联。 |
| 英文摘要: |
| Objective To evaluate the association between the two single nucleotide polymorphisms located in catechol-O-methyltransferase (COMT) gene and type 2 diabetes mellitus (T2DM) in Han population in Guangdong province. Methods Two tagSNPs(rs4646312 and rs4680) were picked out from COMT gene. Using the SNPscanT Kit, SNP genotyping was then performed, in two cohorts, including 595 cases and 725 controls. Finally, Chi-square test, logistic regression model and other methods were employed for statistical analysis. Results The frequencies of TT, CT and CCofrs4646312appearedtobe 304(51.1%),234(39.3%)and57(8.6%) incases,323(44.6%),319 ( 44.0% )and 83 (11.4% ) in controls , respectiveThe frequencies of GG , GA and AA of rs4680 were 311 (52.4%)，236 (39.8%)and 46 ( 7.8%)in cases, 417 (57.7%)，265 ( 36.6%)and 41 ( 5.7%)in controls, respectively. Results showed that SNP rs4646312 was significantly associated with T2DM both in allelic association analysis (P二0.020, OR=1.26, 95%CI: 1.04-1.53) and in recessive model (P=0.022, OR=1.35，95%CI: 1.05-1.74) after adjustment for sex,BMI and TG. The association between rs4680 and T2DM was not significant, but BMI was remarkably different among the three genotypes of rs4680 after controlling for other factors. Conclusion SNP rs4646312 of COMT gene was associated with the increased risk of T2DM in Han population in Guangdong province. However, rs4680 was not significantly associated with T2DM |
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