EXT2基因多态性与南方人2型糖尿病的相关性研究（英文）

目的:探讨EXT2基因多态性与2型糖尿病及其代谢指标的相关性.方法:研究对象均来自于上海地区,其中糖尿病患者共286例,正常人300例.RFLP法检测基因位点rs3740878, rs11037909 和 rs1113132的多态性.Hardy-Weinberg平衡法检测基因型的频率,同时对糖尿病组和正常组的代谢指标进行比较.结果:对于rs3740878 位点:2型糖尿病组A等位基因和AA基因型的频率分别为71%,53.5%,显著高于正常组(65.3%, 47.3%,P<0.01或P<0.05),A等位基因携带者患2型糖尿病的风险是G等位基因携带者的1.30倍(OR=1.30, 95% CI:1.017-1.665,P=0.036),AA基因型患糖尿病的风险是GG基因型的1.68倍(OR=1.68, 95% CI:1.022-2.773, χ2=4.233,P=0.04);同样对于位点rs11037909:2型糖尿病组TT基因型的频率为56.70%显著高于正常组46.3%(χ2=18.262, P<0.000 1),2型糖尿病组T基因的频率74.7%显著高于正常组65.7%(χ2=20.467, P<0.000 1).杂合体CT基因型和纯合体TT基因型患2型糖尿病的风险分别是CC基因型的1.9倍(OR=1.9, 95%CI:1.063-3.405, χ2=4.776, P=0.029)和 2.497倍(OR=2.497, 95%CI:1.419-4.369, χ2=10.482, P=0.001).但是并没有发现这两个基因位点多态性与代谢指标之间有相关性,同样对于rs1113132位点来说,基因型与等位基因的分布在正常组和糖尿病组并没有显著的统计学差异.结论:基因EXT2两个多态性位点(rs3740878) 和(rs11037909)中的等位基因A和T与中国南方人的2型糖尿病有显著的相关性,而位点rs1113132的多态性可能与中国南方人的2型糖尿病无关.

Association studies of polymorphisms in EXT2(exostoses 2) gene with type 2 diabetes in southern Chinese population

Objective: To investigate the association of EXT2 gene polymorphisms(rs3740878, rs11037909, rs1113132 )with type 2 diabetes mellitus and the relevant metabolic parameters. Methods: A total of 286 cases with type 2 diabetes mellitus(type 2 diabetes group) and 300 normal group(NC group) from Shanghai area were used in the study. Polymorphisms of rs3740878, rs11037909 and rs1113132 were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) assay with the genomic DNA. The genotype frequency was analyzed by Hardy-Weinberg disequilibrium. Meanwhile the metabolic parameters were compared between the two groups. Results: The frequencies of A allele and AA genotype of rs3740878 in type 2 diabetes group were 71% and 53.5%, and were significantly higher than those in NC group(65.3% and 47.3%, P<0.01 or P<0.05). The risk of type 2 diabetes for those carrying A allele was 1.30 times higher than those carrying G allele(OR=1.30, 95% CI:1.017-1.665,P=0.036). As compared with the people with GG genotype, those with AA genotype showed 1.68 times increased risk of type 2 diabetes(OR=1.68, 95% CI:1.022-2.773,χ2=4.233, P=0.04). Similarly,as for rs11037909 the TT(56.7%) genotype in type 2 diabetes was significantly higher than normal(46.3%) group(χ2=18.262, P<0.000 1),the allele of T(74.7%) in type 2 diabetes was also higher than the normal(65.7%) group(χ2=20.467, P<0.000 1). Compared with homozygotes(CC) the heterozygotes(CT) increases susceptibility to type 2 diabetes 1.9(OR=1.9, 95% CI:1.063-3.405, χ2=4.776, P=0.029) times and compared with homozygotes(CC) the homoozygotes(TT) increases susceptibility to type 2 diabetes 2.497(OR=2.497, 95% CI:1.419-4.369, χ2=10.482, P=0.001) times. However we found no association between the two SNPs and metabolic parameters. In addition, there were no significant differences in the frequency of rs1113132 polymorphism between type 2 diabetes and normal groups. Conclusion: The A allele(rs3740878) and the T allele(rs11037909) of EXT2 polymorphism were positively associated with T2DM in South Chinese population in Shanghai area.While the site rs1113132 may have nothing to do with type 2 diabetes mellitus in South of China.