三基因单核苷酸多态性与汉族人群2型糖尿病的相关性研究

杨桂; 谢意

三基因单核苷酸多态性与汉族人群2型糖尿病的相关性研究

杨桂^1, ,,
谢意²

- 1. 武汉大学中南医院检验科(武汉, 430071);
- 2. 武汉经济技术开发区武汉协和医院(西区)检验科

详细信息

通讯作者: 杨桂,E-mail:yg24680@sina.com

中图分类号: R587.1

收稿日期: 2013-06-18

Association study on three genes' single nucleotide polymor-phisms and Type 2 diabetes mellitus

YANG Gui^1, ,,
XIE Yi²

- 1. Zhongnan Hospital of Wuhan University, Wuhan, 430071, China;
- 2. Wuhan Union Hospital

More Information

Corresponding author: YANG Gui, E-mail: yg24680@sina.com

Received Date: 18 June 2013

摘要

摘要: 目的：研究rs3923113-GRB14，rs1802295-VPS26A，rs7178572-HMG20A三基因单核苷酸多态性（SNPs）与2型糖尿病（T2DM）及相关代谢指标的相关性。方法：用高分辨率溶解曲线（HRM）小片段基因分型方法检测300例T2DM者及300例健康体检者3 SNP位点基因型及等位基因频率分布。结果：各SNP基因型分布符合遗传平衡定律。rs231362（KCNQ1）的风险基因C患病风险是T等位基因的1.058倍（P=0.012，OR=1.058，95%CI：1.012~1.106）。rs231362（KCNQ1）的3种基因型（TT、CT、CC）在T2DM组与对照组中的分布频率分别为0.7%、19.9%、75.6%和2.7%、25.6%、71.7%，2组基因型分布差异有统计学意义（P=0.031）。该位点在其隐性模型中（CC VS CT+TT），2组差异有统计学意义（P=0.028，OR=1.11，95%CI：1.01~1.22）。rs3923113-GRB14、rs7178572-HMG20A基因型分布在病例组与对照组中未见显著性差异。我们分析了对照组血糖血脂与各SNP位点基因型之间的关系，rs3923113在显性模型[（TT+GT）/GG]下TT+GT组总胆固醇（TC）值低于GG组；TT+GT组高密度脂蛋白（HDL-C）1.07（0.90~1.19） mmol/L低于GG组1.21（1.02~1.41） mmol/L，P值分别为0.017与0.036。结论：rs231362-KCNQ1可能与中国人群T2DM发病有关。rs3923113-GRB14与TC及HDL-C升高有关。
- 2型糖尿病 /
- 基因 /
- 单核苷酸多态性
Abstract: Objective: To investigate the relationship between single nucleotide polymorphism (SNPs) of rs3923113,rs1802295,rs7178572 and type 2 diabetes (T2DM) and related quantitative traits.Method: Three genes' genotypes were detected by high-resolution melting (HRM) in 300 T2DM patients and 300 controls.Result: There were no significant difference in genotype distributions of the rs3923113 on GRB14gene and the rs7178572 on HMG20A gene.The rs231362 on KCNQ1 gene was found to be associated with T2DM.And the triglyceride levels were higher,while the high-density lipoprotein cholesterol was lower in TT and GT carriers than GG carriers of rs3923113.Conclusion: The rs231362 may be associated with T2DM in the Chinese population,and the rs3923113 may be associated with lipid metabolism disorders.
- Type 2 diabetes mellitus /
- gene /
- single nucleotide polymorphism

HTML全文

参考文献(10)

[1]	黄青阳,程孟荣,姬森林.2型糖尿病易感基因的连锁和关联研究[J].遗传学报,2006,7:573-589.
[2]	郑骄阳,陆斌,刘志民.应用基因芯片技术对2型糖尿病胰岛素抵抗脂肪信号转导相关基因的研究[J].上海医学,2005,1:23-26.
[3]	ARTEGIANI B,LABBAYE C,SFERRA A,et al.The interaction with HMG20a/b proteins sug-gests a potential role for beta-dystrobrevin in neuronal differentiation[J].J Biol Chem,2010,285:24740-24750.
[4]	LU S,XIE Y,LIN K,et al.Genome-wide association studies-derived susceptibility loci in type 2 diabetes:confirmation in a Chinese population[J].Clin Invest Med,2012,35:327-328.
[5]	HILL C E,DUNCAN A,WIRTH D,et al.Detection and identification of cytochrome P-4502C9 alleles 1,2,and *3 by high-resolution melting curve analysis of PCR amplicons[J].Am J Clin Pathol,2006,125:584-591.
[6]	HU C,WANG C,ZHANG R,et al.Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population[J].Diabetologia,2009,52:1322-1325.
[7]	周琦,李伟,郑景晨,等.KCNQl基因单核苷酸多态性与妊娠期糖尿病相关性研究[J].生殖医学杂志,2010,19(1):40-47.
[8]	AL-DAGHRI N M,ALKHARFY K M,ALOKAIL M S,et al.Assessing the contribution of 38 ge-netic loci to the risk of type 2 diabetes in the Saudi Arabian Population[J].Clin Endocrinol (Oxf),2013:1111-1113.
[9]	FUKUDA H,IMAMURA M,TANAKA Y,et al.A single nucleotide polymorphism within DUSP9 is associated with susceptibility to type 2 diabetes in a Japanese population[J].PLoS One,2012,7:46263-46264.
[10]	RIDKER P M,PARE G,PARKER A N,et al.Polymorphism in the CETP gene region,HDL cholesterol,and risk of future myocardial infarction:Genomewide analysis among 18245 initially healthy women from the Women's Genome Health Study[J].Circ Cardiovasc Genet,2009,2:26-33.