1型糖尿病患者及其一级亲属趋化因子受体CCR2和CCR5的基因多态性研究

Analyses of CCR5 and CCR2 polymorphism in Chinese type 1 diabetics and their first relatives

目的 探讨趋化因子受体CCR2、CCR5基因多态性与 1型糖尿病 (T1DM)及其一级亲属之间的关系 ,并与T2DM及非DM对照进行比较。 方法 利用PCR方法检测 48例T1DM及其 5 7名一级亲属CCR5的基因多态性 ,利用BsaBI限制性内切酶的PCR RFLP方法检测T1DM及其一级亲属的CCR2基因多态性。 结果 T1DM组、T1DM一级亲属组、T2DM组分别与非DM对照组比较 ,CCR5Δ32突变的等位基因频率和基因型频率差异无显著意义。T1DM组CCR2 6 4I突变基因型及等位基因频率均高于非DM对照组 (P <0 .0 1) ;T2DM组CCR2 6 4I突变基因型及等位基因频率均低于T1DM组 (P <0 .0 1)。 结论 CCR5Δ32突变与T1DM无显著相关性。CCR2 6 4I突变与T1DM发病显著相关 ,CCR2基因可能是T1DM一个新的候选基因。

Objective To explore the relationship between chemokine receptor CCR5, CCR2 gene polymorphism and Chinese type 1 diabetics, as well as their first relatives. Methods CCR5Δ32 gene polymorphism was detected by polymerase chain reaction(PCR) method in 48 patients with type 1 diabetes and 57 their first relatives.CCR2-64I gene polymorphism was detected by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) in the same groups. Results There were no significant differences in CCR5Δ32 genotype frequencies or allele frequencies among type 1 diabetics, the first relatives of type 1 diabetics and type 2 diabetics when compared with non-diabetic controls respectively (P>0.05). But CCR2-64I genotype frequencies or allele frequencies in type 1 diabetics was significantly higher than non-diabetic controls. However, this mutation in type 2 diabetics was lower than in type 1 diabetics (P<0.01). Conclusion CCR5Δ32 has no relationship with type 1 diabetes. CCR2-64I is significantly associated with type 1 diabetes and maybe, it is a new candidate gene for type 1 diabetes.