IL-18基因启动子区-607CA位点多态性与痛风发病相关性.docVIP

IL18基因启动子区607C/A位点多态性与痛风发病相关性作者：王新凤1，袁鹰2，李长贵3，刘世国4????作者单位：(青岛大学医学院附属医院内分泌科，山东 青岛 266003)【摘要】? 目的 探讨山东汉族人白细胞介素18(IL18)基因启动子区607C/A位点单核苷酸多态性与痛风易感性之间的关系。方法 应用聚合酶链反应序列特异性引物技术，检测100例痛风病人和100例非痛风病人IL18基因启动子区607C/A单核苷酸多态性位点的基因型。结果 非痛风病人和痛风病人IL18基因启动子区607C/A位点3种基因型频率分别为：AA型0.18(18/100)、0.18(18/100)，AC型0.58(58/100)、0.67(67/100)，CC型0.24(24/100)、0.15(15/100)。IL18基因启动子区607C/A位点的基因型和等位基因频率在两组之间分布无明显差异。结论 山东汉族人群中IL18基因启动子区607C/A位点存在多态性，但痛风与该多态性无相关性。 【关键词】? 痛风;白细胞介素18;多态性,单核苷酸 　THE RELATIONSHIP BETWEEN THE MONONUCLEOTIDE POLYMORPHISM (SNP) AT POSITION607 AT THE PROMOTER REGION OF INTERLEUKIN18 GENE AND GOUT MORBIDITY WANG XINFENG, YUAN YING, LI CHANGGUI, et al(Department of Endocrinology, The Affiliated Hospital of Qingdao University Medical College, Qingdao 266003, China); [ABSTRACT] Objective To investigate the mononucleotide polymorphism (SNP) at position607 at the promoter region of interleukin18 (IL18) gene for the association with gout in Chinese Han population of Shandong province. Methods The polymorphism of promoter region in the IL18 gene (607C/A) was studied in 100 gout patients and 100 nongout controls by using sequencespecific primers polymerase chain reaction (PCRSSP) and sequencing. Results The frequency of AA genotype in IL18607C/A was 0.18 (18/100) in normal controls and 0.18 (18/100) in patients. The frequency of AC genotype was 0.58 (58/100) in normal controls and 0.67 (67/100) in the patients. The frequency of CC genotype was 0.24 (24/100) in nongout group and0.15 (15/100) in gout group. There was no significant difference in terms of the frequencies of alleles and genotype of IL18607C/A between the two groups. Conclusion IL18607C/A polymorphism exists in Chinese Han population of Shandong province. However, there is no relationship for polymorphism of IL18607C/A between gout group and nongout group. 　　[KEY WORDS] gout; interleukin18; polymorphism, single nucleotide 　　痛风是由于嘌呤代谢紊乱导致血尿酸增高而引起组织损伤的一组疾病,是由遗传性和获得性引起的尿酸排泄减少和嘌呤代谢障碍