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中国人群2型糖尿病相关基因的关联分析及基因型交互作用研究 被引量:3

Association analyses and genotype interaction studies of type 2 diabetes related genes in Chinese population
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摘要 目的:检验糖尿病候选基因在中国人群中与2型糖尿病的相关性。方法:以1 463名无血缘关系的中国天津地区人群为研究对象[其中对照组(非糖尿病)548名,病例组(2型糖尿病)915名]进行病例-对照研究。采用MALDI-TOF MS对17个基因的21个SNP位点进行基因分型,运用PLINK软件进行关联分析及基因型交互作用分析。结果:发现5个SNP位点与2型糖尿病显著相关(P<0.05),分别为CDKN2A/B(rs10811661,P=2.91×10-5)、CDKAL1(rs7756992,P=0.0028)、LPHN3(rs6856526,P=0.0031)、IGF2BP2(rs4402960,P=0.0006)和ABCG2(rs2231142,P=0.0315);并发现6对基因间的交互作用达到显著水平(P<0.05)。结论:LPHN3和ABCG2基因的多态性与2型糖尿病相关;并进一步验证了CDKN2A/B、CDKAL1、IGF2BP2基因的多态性在中国人群中与2型糖尿病的关联性。 Objective: To identify associations of diabetes candidate genes with type 2 diabetes in Chinese population. Methods: 1 463 unrelated Chinese from Tianjin in a ease-control study (non-diabetes controls, n=548; type 2 diabetes cases, n=915) were examined. 21 single nueleotide polymorphisms (SNPs) in 17 genes were genotyped by MALDI-TOF MS, PLINK software was used for association aml pairwise genotype interaction analyses. Results: Five genes were significantly associated with type 2 diabetes (P〈0.05), including CDKN2A/B (rsl0811661, P=2.91 × 10-5), CDKAL1 (rs7756992, P=0.0028), LPHN3 (rs6856526, P=-0.0031), IGF2BP2 (rs4402960, P=0.0006), and A BCG2 (rs2231142, P=O.0315); Genotype interactions (epistasis) among 6 pairs of SNPs were significantly associated with type 2 diabetes (P〈0.05). Conclusion: In this study, the polymorphisms of LPHN3 and ABCG2 gene are associated with type 2 diabetes; previous associations among CDKN2A/B, CDKAL1, and IGF2BP2 gene polymorphisms and type 2 diabetes are replicated in Chinese population.
出处 《天津医科大学学报》 2013年第1期6-8,12,共4页 Journal of Tianjin Medical University
基金 国家自然科学基金资助项目(81070576) 天津市自然科学基金重点项目(12JCZDJC 24700)
关键词 2型糖尿病 单核苷酸多态性 关联分析 基因型交互作用 type 2 diabetes single nucleotide polymorphism association analysis genotype interaction
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