IL-1RN内含子2和外显子2基因多态性的分布特点及其与血脂的相关关系

The distribution of gene polymorphisms in the intron 2 and exon 2 of interleukin-1 receptor antagonist and their correlation with the serum lipoprotein level

目的 探讨武汉地区汉族健康人群白细胞介素-1受体拮抗剂基因(IL-1RN)第2号内含子中可变数串联重复序列(VNTR)多态性和第2号外显子+8006位点单核苷酸多态性(SNP)的分布特点及其与血脂的相关关系。方法 采用聚合酶链反应(PCR)和PCR-限制性片段长度多态性(RFLP)的分析方法,检测了251名武汉地区汉族健康者IL-1RN(VNTR)和IL-1RN(+8006)多态性,同时检测其血脂、IL-1和IL-1Ra水平。结果 IL-1RN(VNTR)的等位基因以Ⅰ型最为常见,其次为Ⅱ型,Ⅳ型较为罕见;IL-1RN(+8006)的等位基因以T型最为常见,其次为C型;IL-1RN(VNTR)的等位基因Ⅱ总是伴随着IL-1RN(+8006)的等位基因C而出现;这两种多态性的分布在男女间差异不显著,且与血脂、IL-1和IL-1Ra水平间不存在相关关系(P>0.05)。结论 武汉地区汉族健康人群IL-1RN内含子2和外显子2中均存在基因多态性,其等位基因间存在连锁不平衡;这两种多态性与血脂、IL-1和IL-1Ra水平间不存在相关关系。

Objective To study the distribution of variable numbers of tandem repeat (VNTR) polymorphism in the intron 2 and the single nucleoide polymorphism(SNP) at position + 8006 in the exon 2 of IL-IRN in healthy Chinese Han Population of Wuhan province and to analyze their correlation with the serum lipoprotein level. Methods IL-1RN(VNTR) and IL-1RN(+ 8006) polymorphisms were detected by PCR and PCR-RFLP metheods in 251 healthy Chinese Han Population of Wuhan, and the levels of serum lipoprotein, IL-1 and IL-1Ra wer inspected simultaneousy. Results In IL-1RN(VNTR), allele Ⅰ appeared most common, then allele Ⅱ, and allele Ⅳ was rare. At the position of IL-1RN(+ 8006), allele T was most commonly seen followed by allele C. Allele Ⅱ of IL-1RN(VNTR) always existed with allele C of IL-1RN(+ 8006). The levels of serum lipoprotein, IL-1 and IL-1Ra were not different arnong the different genotypes of the two polymorphisms. Conclusion There were two gene polymorphisms in the intron 2 and exon 2 of IL-1RN, which were no correlated with the levels of serum lipoprotein, IL-1 and IL-1Ra. However,there seemed to be a linkage disequilibrium between IL-1RN (VNTR) and IL-1RN (+ 8006).