女性雌激素受体α基因多态性分布特征及血脂关系研究  

Distribution of estrogen receptor α gene polymorphisms and associations with blood lipids in women

作　　者：白永恒[1] 黄友泽 陆红[1] 吴琦[1] 刘乐平[1] 陈必成[1] 

机构地区：[1]温州医学院附属第一医院,浙江温州325000 [2]浙江省温州市第八人民医院,浙江温州325000

出　　处：《中国卫生检验杂志》2010年第12期3128-3130,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的:调查女性雌激素受体α(ESRα)基因多态性的分布特征,并探讨其与血脂水平的关系。方法:收集605例浙江地区健康女性人群作为研究对象,提取其外周血DNA,应用PCR-RFLP和测序技术分析ESRα基因rs2234693和rs9340799位点的单核苷酸变异,计算其基因型和等位基因频率。同时检测其血清中血脂含量,以评价基因型与血脂水平之间的相关性。结果:ESRα基因rs2234693位点以"T"基因型(CT或TT)为主,而rs9340799位点则以"A"基因型(AA或AG)为主;ESRα基因两个位点各自的基因型分布与血脂水平差异无统计学意义(P>0.05);但携带有复合基因型"CTGG"(P=0.004,TG:0.60±0.21 mmol/L)或"TTAG"(P=0.014,TG:0.78±0.29 mmol/L)的女性人群甘油三脂水平均低于平均值(TG:1.14±0.93 mmol/L)。结论:ESRα基因复合基因型"CTGG"或"TTAG"与低甘油三脂水平明显相关,这可为女性血脂水平异常提供一些分子遗传学证据。Objective：To investigate the distribution of Estrogen receptor alpha（ESRα） gene polymorphisms in women and evaluate the associations with blood lipid.Methods： Blood samples were collected from 605 healthy females in Zhejiang region.The genotypes were detected by PCR-RFLP and confirmed by sequencing.The genotype and allelic frequencies were calculated and analyzed.The levels of blood-lipid were measured and their associations with genotypes were evaluated.Results： The distribution frequency of rs2234693 is mostly ＂T＂ allele（CT or TT genotypes）,and rs9340799 was ＂A＂ allele in the majority（AA or AG genotypes）.Our results showed no significant difference between ESRα genotypes and the levels of blood-lipid,but blood lipid levels in patients with the multiplex genotypes ＂CTGG＂（P=0.004,TG： 0.60±0.21 mmol/L） or ＂TTAG＂（P=0.014,TG： 0.78±0.29 mmol/L） were below the average（TG： 1.14±0.93 mmol/L）.Conclusion： The multiplex genotypes ＂CTGG＂ or ＂TTAG＂ are linked to low levels of triglyceride,and these can give some genetic evidence for the abnormality of female blood-lipid levels.

关 键 词：雌激素受体Α 多态性 血脂 女性 

分 类 号：R977.12[医药卫生—药品]