江苏大学学报（医学版）
江囌大學學報（醫學版）
강소대학학보（의학판）
JOURNAL OF JIANGSU UNIVERSITY (MEDICINE EDITION)
2010年
3期
256-262
,共7页
2型糖尿病%单核苷酸多态性%EXT2基因
2型糖尿病%單覈苷痠多態性%EXT2基因
2형당뇨병%단핵감산다태성%EXT2기인
type 2 diabetes%single nucleotide polymorphism%EXT2 gene
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.
目的:探討EXT2基因多態性與2型糖尿病及其代謝指標的相關性.方法:研究對象均來自于上海地區,其中糖尿病患者共286例,正常人300例.RFLP法檢測基因位點rs3740878, rs11037909 和 rs1113132的多態性.Hardy-Weinberg平衡法檢測基因型的頻率,同時對糖尿病組和正常組的代謝指標進行比較.結果:對于rs3740878 位點:2型糖尿病組A等位基因和AA基因型的頻率分彆為71%,53.5%,顯著高于正常組(65.3%, 47.3%,P<0.01或P<0.05),A等位基因攜帶者患2型糖尿病的風險是G等位基因攜帶者的1.30倍(OR=1.30, 95% CI:1.017-1.665,P=0.036),AA基因型患糖尿病的風險是GG基因型的1.68倍(OR=1.68, 95% CI:1.022-2.773, χ2=4.233,P=0.04);同樣對于位點rs11037909:2型糖尿病組TT基因型的頻率為56.70%顯著高于正常組46.3%(χ2=18.262, P<0.000 1),2型糖尿病組T基因的頻率74.7%顯著高于正常組65.7%(χ2=20.467, P<0.000 1).雜閤體CT基因型和純閤體TT基因型患2型糖尿病的風險分彆是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).但是併沒有髮現這兩箇基因位點多態性與代謝指標之間有相關性,同樣對于rs1113132位點來說,基因型與等位基因的分佈在正常組和糖尿病組併沒有顯著的統計學差異.結論:基因EXT2兩箇多態性位點(rs3740878) 和(rs11037909)中的等位基因A和T與中國南方人的2型糖尿病有顯著的相關性,而位點rs1113132的多態性可能與中國南方人的2型糖尿病無關.
목적:탐토EXT2기인다태성여2형당뇨병급기대사지표적상관성.방법:연구대상균래자우상해지구,기중당뇨병환자공286례,정상인300례.RFLP법검측기인위점rs3740878, rs11037909 화 rs1113132적다태성.Hardy-Weinberg평형법검측기인형적빈솔,동시대당뇨병조화정상조적대사지표진행비교.결과:대우rs3740878 위점:2형당뇨병조A등위기인화AA기인형적빈솔분별위71%,53.5%,현저고우정상조(65.3%, 47.3%,P<0.01혹P<0.05),A등위기인휴대자환2형당뇨병적풍험시G등위기인휴대자적1.30배(OR=1.30, 95% CI:1.017-1.665,P=0.036),AA기인형환당뇨병적풍험시GG기인형적1.68배(OR=1.68, 95% CI:1.022-2.773, χ2=4.233,P=0.04);동양대우위점rs11037909:2형당뇨병조TT기인형적빈솔위56.70%현저고우정상조46.3%(χ2=18.262, P<0.000 1),2형당뇨병조T기인적빈솔74.7%현저고우정상조65.7%(χ2=20.467, P<0.000 1).잡합체CT기인형화순합체TT기인형환2형당뇨병적풍험분별시CC기인형적1.9배(OR=1.9, 95%CI:1.063-3.405, χ2=4.776, P=0.029)화 2.497배(OR=2.497, 95%CI:1.419-4.369, χ2=10.482, P=0.001).단시병몰유발현저량개기인위점다태성여대사지표지간유상관성,동양대우rs1113132위점래설,기인형여등위기인적분포재정상조화당뇨병조병몰유현저적통계학차이.결론:기인EXT2량개다태성위점(rs3740878) 화(rs11037909)중적등위기인A화T여중국남방인적2형당뇨병유현저적상관성,이위점rs1113132적다태성가능여중국남방인적2형당뇨병무관.
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.
