【摘要】 目的:观察瘦素基因启动子区第2548位核苷酸G→A变异与汉族男性原发性高尿酸血症的关系。方法:将321例男性体检者分为高尿酸血症组(145例)与对照组(176例),进行瘦素基因多态性的检验,同时进行血浆瘦素水平、人体测量学、代谢、临床参数的检测。结果:高尿酸血症组和对照组瘦素基因G2548A位点不同基因型的分布差异有统计学意义,携带A等位基因的频率明显高于对照组(χ2=17.313,P<0.01),瘦素基因的G/G、A/G、A/A各基因型的血尿酸(SUA)、胰岛素浓度(INS)、HOMA-IR及瘦素(LEP)水平呈依次上升趋势,其中A/A基因型与G/G基因型的差异有统计学意义(P<0.05)。结论:高尿酸血症患者的瘦素基因G2548A多态性与空腹血浆瘦素水平、胰岛素浓度、血尿酸水平相关。A等位基因可能是原发性高尿酸血症(HUM)发病的遗传易感因素。更多还原

【Abstract】 Objective:To explore whether single nucleotide polymorphism G/A in the promoter of leptin gene related to hyperuricemia in Chinese Han peoples of Urumqi city.Methods:The genotypes of leptin were detected by the methods of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in 145 hyperuricemia patients and 176 controls.Leptin,body common items and biochemical variable were measured.Results:There was significance difference in frequencies of allele in G2548A polymorphism between hyperuricemia and control group(χ2=17.313,P<0.01).Individuals with AA genotype showed higher fasting leptin,INS,HOMA-IR than those with GG genotype(P<0.05).Conclusion:The G2548A polymorphism in leptin gene is associated with fasting leptin in patients with hyperuricemia.Anallele of leptin may be a genetic factor that may contribute to individual susceptibility for hyperuricemia.更多还原