目的:研究Megsin基因C25663G多态性与我国汉族人群IgA肾病发生、发展的关系。方法:应用PCR—RFlP方法鉴定IgA肾病患者基因型,用以家庭为基础的传递不平衡检验(TDT)、单倍型相对危险度(HRR)分析结合病例一对照研究方法,分析Megsin基因C25663G多态性与我国汉族人群IgA肾病发生的关系。IgA肾病患者按病情是否稳定分为病情进展组和稳定组,比较两组间基因型分布频率差异。结果:TDT显示Megsin基因C25663G等位基因的传递在IgA肾病患者没有显著倾向性(x^2=0.203,P=0.652),HRR分析已传递和未传递等位基因频率无统计学差异(x^2=0.268,P=0.679),IgA肾病患者和正常对照者基因型和等位基因分布频率无统计学差异(P〉0.05)。在IgA肾病进展组和稳定组之间,基因型分布频率无统计学差异(x^2=2.400,P=0.153)。结论:Megsin基因C25663G多态性与中国汉族人群IgA肾病的发生及病情进展无关。
Objective:To investigate the relationship of Megsin gene C25663G polymorphisrn and IgA nephropathy in Chinese Han population. Methods: 471 IgAN patients, their family members and 197 normal controls were recruited. Genotypes of Megsin gene C25663G were identified by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). The results was analysed by transmission Disequilibrium Test(TDT), haplotype relative risk(HRR) and casecontrol analyses. According to their disease stability, IgAN patients were divided into progressive group and stable group. The distribution of genotype frequencies were compared between the two groups. Results: TDT and HRR analyses found no difference in allele transmission of Megsin C25663G (x^2 = 0. 203, P = 0. 652; x^2 = 0. 268, P = 0. 679, respectively), and no difference was found in the distribution of genotype and allele frequencies between IgAN patients and normal controls (x^2 = 4. 044, P = 0. 132 ;x^2 = 0. 265, P = 0. 629, respectively). In the comparison of genotype frequency distribution between progressive group and stable group, no statistical difference was found either(x^2 = 0. 208, P = 0. 300). Conclusion: Megsin gene C25663G polymorphisrn isn't associated with susceptibility and progression of IgA nephropathy in Chinese Han popolation.