骨保护素基因G1181C多态性在维持性血透患者人群中的分布

摘要

Objective To investigate the distribution of the single G1181C mutation polymorphism in maintenance hemodialysis patients of osteoprotegerin gene. Methods The G1181C genotypes of OPG gene polymorphisms was detected in a population of 110 maintenance hemodialysis patients by MALDI-TOF MS approach. Results (1) The distribution of genotype in Hunan Changsha population did not deviate significantly from the Hardy-Weinberg equilibrium; (2)Genotype distributions was significantly different between subgroups classified with different causes of ESRD , the difference was also significant between the men and women ; (3) Frequency of genotypes in hemodialysis patients were as follows: CC (16.1%), GC(30.4%), GG (53.5%). Compared to Hunan Changsha population, the genotype and allele frequencies were statistically significant in the European, while the genotype and allele frequencies were not statistically significant in Japanese. Conclusion The gender, causes of ESRD and race diversity of the single G1181C mutation polymorphism of OPG exist in maintenance hemodialysis patients of Hunan Changsha population.%目的:探讨骨保护素(OPG)基因启动子区G1181C基因型和等位基因频率在维持性血液透析(MHD)患者人群中的分布差异.方法:采用MALDI-TOF MS技术检测110例长沙地区MHD患者和OPG基因G1181C多态性位点的基因型.结果:(1)湖南长沙地区汉族MHD人群OPG基因G1181C基因型频率分布符合Hardy-Weinberg遗传平衡定律;(2)G1181C基因多态性频率分布比较差异在不同性别、原发病患者中有统计学意义;(3)湖南长沙地区MHD患者OPG基因G1181C多态性位点GG基因型发生频率最高(53.5%),基因型GC频率次之(30.4%),CC基因型频率最低(16.1%),基因型和等位基因频率分布与欧洲人群有一定差异,与日本及上海地区人群差异无统计学意义.结论:湖南长沙地区MHD患者OPG基因G1181C多态性频率分布可能存在性别、原发病及种族特异性.