骨桥蛋白基因单核苷酸多态性与2型糖尿病合并糖尿病肾病的关联研究

目的 探讨骨桥蛋白基因rs11730582、rs11439060和rs28357094多态性与糖尿病肾病的关系.方法 以2015年7月-2016年3月于长江大学附属第一医院内分泌科住院的湖北地区汉族2型糖尿病病人600例为研究对象.应用质谱法研究骨桥蛋白基因rs11730582、rs11439060和rs28357094多态性在2型糖尿病肾病组(334例,病例组)和2型糖尿病非肾病组(266例,对照组)中的基因频率分布.结果 位点rs28357094在病例组和对照组中均表现为纯合子TT,不具有多态性.位点rs11730582和rs11439060的等位基因频率和基因型频率的比较差异无统计学意义.连锁不平衡分析显示rs11730582和rs11439060之间有较强的连锁不平衡,单体型分析发现T-G、C-delG、T-delG 3种单体型,这些单体型的差异比较也无统计学意义.结论 骨桥蛋白基因rs11730582、rs11439060和rs28357094多态性与湖北地区汉族居民2型糖尿病合并肾病无关.

Association of OPN gene polymorphisms with type 2 diabetic nephropathy

Objective To investigate whether the OPN gene rs11730582,rs11439060 and rs28357094 polymorphism are associated with a high risk of diabetic nephropathy (DN) in type 2 diabetic mellitus (T2DM).Methods The allele frequencies and the genotype distribution of the OPN rs11730582,rs11439060 and rs28357094 were studied in case group (T2DM with DN,334 cases) and control group (T2DM without DN,266) by MALDI-TOF Mass ARRAY system.Results rs28357094 was not polymorphic with the only homozygous genotype TT.The allele frequencies and genotype frequencies of rs11730582 and rs11439060 in control group and case group had no statistical significance.Linkage disequilibrium test showed strong linkage disequilibrium between rs11730582 and rs11439060.Haplotype analysis showed T-G,C-delG and T-delG haplotypes,and the 3 haplotypes in control group and case group had no statistical significance.Conclusion This study provides the first evaluation of genetic variants in OPN gene in a Hubei Han population with DN attributed to T2DM.The result showed the 3 SNP had no statistical correlations with DN attributed to T2DM in Hubei Han population.