白细胞介素-6受体基因单核苷酸多态性及单体型与2型糖尿病的相关性研究

摘要

目的 探讨白细胞介素-6受体(IL-6R)基因单核苷酸多态性(SNP)及单体型与2型糖尿病的相关性.方法 选择入住本院的88例2型糖尿病(T2DM)患者为2型糖尿病组,以同期体检并糖耐量正常的98例健康自愿者为对照组,采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)方法对IL-6R基因的2个SNP位点予以基因型检测.采用聚类分析方法分析基因多态性特征.结果 2型糖尿病组D358A基因型中A等位基因频率较对照组高,C等位基因频率较对照组降低,差异有统计学意义(P＜0.05).2型糖尿病组-183(G→A)基因型频率与等位基因频率和对照组比较,差异均无统计学意义(P＞0.05).A2-G单体型在两组中最为常见,其频率分布为0.391、0.288(P =0.053).在4种单体型中两组仅C-A1单体型的频率差异有统计学意义,分别为0.103、0.281 (P =0.001).结论 IL-6R基因第9外显子D358A(rs8192284)是种有价值的遗传性标志,C等位基因对2型糖尿病具有保护作用,携带C-A2单体型的人群较易患2型糖尿病.%Objective To discuss interleukin-6 receptor(IL-6R) single nucleotide polymorphism (SNP) gene and haplotype with type 2 diabetes mellitus(T2DM).Methods Enshi region Tujia,Miao in 88 patients with type 2 diabetes mellitus as group T2DM,selected from the same area in normal glucose tolerance in 98 healthy volunteers as a control group,respectively PCR-RFLP technology on IL-6R gene of 2 SNP loci to genotypes were detected.By using cluster analysis method for the analysis of gene polymorphism.Results In group T2DM,D358A genotype frequency and allele frequencies were compared with control group,the difference was statistically significant (P ＜ 0.05).The T2 DM in group-183 (G→ A)genotype frequency and allele frequencies were compared with control group,the difference was not statistically significant(P ＞0.05).A1-G in the two groups are the most common,the frequency distribution of 0.391/0.288 (P =0.053).In four kinds of haplotypes in two groups of only C-A2 frequency difference has statistics significance,respectively 0.103/0.281 (P =0.001).Conclusion The IL-6R gene exon ninth D358A(rs8192284) is a kind of valuable genetic markers,C allele of T2DM play a protective role,carrying the C-A2 haplotypes in the population is susceptible to T2DM,so it is needed to prevent risk.