内脂素基因多态性与2型糖尿病的关系

Relationship between single nucleotide polymorphisms of visfatin and type 2 diabetes mellitus

目的探讨内脂素(visfatin)rs11977021、rs12537455、rs2110385位点单核苷酸多态性与2型糖尿病易感性的关系。方法收集陕西西安地区汉族人群192例受试对象,其中106例单纯2型糖尿病(T2DM)患者和86例健康对照者,采用标准化的聚合酶链反应-限制性片段长度多态性(PCR-RLFP)方法,分别检测内脂素(visfatin)rs11977021/DdeⅠ、rs12537455/AluⅠ和rs2110385/AluⅠ基因型并进行比较。结果 rs2110385位点的T等位基因频率和GT基因型频率在T2DM组均高于健康对照组(分别为28.3、14.0和14.2、7.0,P均<0.05);两组的rs11977021位点和rs12537455位点C、T等位基因及基因型频率分布均无统计学差异(P>0.05);单倍型分析显示T-C-T和T-T-T单倍型在T2DM组均显著高于健康对照组(分别为0.066、0.026和0.029、0.012,P均<0.05)。结论 Visfatin基因rs2110385位点在陕西西安汉族地区人群中存在遗传变异,其rs2110385多态性位点的T等位基因可能与T2DM的发病风险有一定的关系。

Objective To investigate the correlation between single nucleotide polymorphisms of rs11977021,rs12537455 and rs2110385 in visfatin gene and type 2 diabetes mellitus（T2DM）.Methods A total of 192 Han individuals in Xi’an were selected and divided into two groups： T2DM group consisted of 106 patients while control group consisted of 86 healthy individuals.The anti-coagulated peripheral blood samples were obtained from each individual.DNA was extracted from each blood sample,and single nucleotide polymorphisms at rs11977021/ Dde I,rs12537455/Alu I and rs2110385/Alu I were analyzed by standard polymerase chain reaction-restriction fragment length polymorphisms（PCR-RFLP）.Results In T2DM group,T allele frequency and GT genotype frequencies of rs2110385 were higher than those in control group（28.3,14.0 vs.14.2,7.0,respectively,all P〈0.05）.There was no significant association in rs11977021and rs12537455 alleles and genotypes with type 2 diabetes（P〉0.05）.T-C-T and T-T-T haplotype were higher in T2DM group（0.066,0.026 vs.0.029,0.012,respectively,all P〈0.05）.Conclusion These results indicate that visfatin rs2110385 with genetic variation exists in Xi’an Han population,and T allele may be associated with the risk of type 2 diabetes mellitus.