SUMO4基因多态性与2型糖尿病的关系  

Association between SUMO4 polymorphisms and type 2 diabetes mellitus

作　　者：蒲连美[1] 南楠[1] 杨泽[2] 金泽宁[1] 

机构地区：[1]首都医科大学附属安贞医院心内科,北京100029 [2]卫生部北京医院/卫生部北京老年医学研究所,卫生部老年医学重点实验室,北京100730

出　　处：《遗传》2012年第3期315-325,共11页Hereditas（Beijing)

摘　　要：为了探讨北京汉族人群小泛素样修饰蛋白4(Small ubiquitin-like modifier 4,SUMO4)基因多态性与2型糖尿病(Type 2 diabetes mellitus,T2DM)的关系,文章采用病例对照设计,选取404例T2DM患者(T2DM组)以及年龄、性别匹配的500例健康对照者(Control组)作为研究对象,应用聚合酶链反应-高分辨熔解曲线(PCR-HRM)技术结合测序验证法,检测SUMO4基因3个单核苷酸多态性位点(rs237025、rs237024及rs600739)的基因型与等位基因分布情况,比较T2DM组糖化血红蛋白(Hemoglobin A1c,HbA1c)在各基因型间的分布,并进行单倍型分析。结果显示:①rs237025的G等位基因在T2DM组出现的频率更高(0.334 vs.0.282,P=0.017);GA基因型携带者患T2DM的风险是AA基因型携带者的1.563倍(P=0.001;OR,1.563;95%CI,1.189-2.053);在显性模型(GG+GA vs.AA)分析中,G等位基因携带者(GG+GA)患T2DM的风险是AA基因型携带者的1.525倍(P=0.002;OR,1.525;95%CI,1.169-1.989)。而rs237024和rs600739多态性未发现与T2DM的易感性相关(P>0.05)。②在T2DM组,rs237025的G等位基因携带者、rs237024的TT基因型携带者及rs600739的GG基因携带者具有较高的HbA1c水平,但各基因型携带者之间HbA1c水平并无统计学差异(P>0.05)。③单倍型AAC、AGC及GGT与T2DM的易感性正相关(OR>1);而单倍型AAT、GAC与T2DM的易感性负相关(OR<1)。据此得出结论:rs237025多态性与北京汉族人群T2DM的易感性相关,rs237024和rs600739多态性可能与T2DM的易感性不相关。This study investigated the association between small ubiquitin-like modifier 4（SUMO4） gene polymorphisms and type 2 diabetes mellitus（T2DM） in Chinese Han of Beijing area.Using the case-control method,we included 404 T2DM patients in T2DM group and 500 age-and gender-matched healthy subjects in control group.We detected the distribution of alleles and genotypes of the three single nucleotide polymorphisms（SNPs,rs237025,rs237024 and rs600739） with the polymerase chain reaction-high resolution melting curve（PCR-HRM） combined with gene sequencing,analysed the differences of glycosylated hemoglobin A1c（HbA1c） among different genotypes carriers in T2DM group,and conducted a haplotype analysis.In this study,the results showed that the frequency of the G allele of rs237025 was significantly higher in T2DM group than that of control group（0.334 vs.0.282,P = 0.017）.Compared with control group,the GA genotype carriers of T2DM patients had 1.563 times more susceptibility to T2DM [P =0.001;odds ratio（OR）,1.563;95% confidence interval（CI）,1.189 2.053].Meanwhile,the G allele carriers（GG＋GA） of T2DM patients had 1.525 times more susceptibility to T2DM in the dominant model（GG＋GA vs.AA,P = 0.002;OR,1.525;95% CI,1.169-1.989）.However,as for rs237024 and rs600739,no significant differences were found in the distribution of the genotypes and alleles between two groups（P 0.05）.Although our study didn＇t observe any statistically significant results,we found that T2DM patients with GG and GA genotypes of rs237025,TT genotype of rs237024 and GG genotype of rs600739 had a higher level of HbA1c than counterparts in control group.In addition,the AAC,AGC and GGT haplotypes might contribute to susceptibility to T2DM（OR1）,while the AAT and GAC haplotypes might be considered as protective factors against T2DM（OR1）.The results suggested that rs237025 polymorphisms was associated with susceptibility to T2DM,but rs237024 and rs600739 were not.

关 键 词：SUMO4 多态性 2型糖尿病 单体型 关联 

分 类 号：R587.1[医药卫生—内分泌]