雌激素受体基因多态性与绝经后女性代谢综合征的相关性研究  

Effects of ER gene polymorphisms on metabolic syndrome in postmenopausal women

作　　者：孙树凯[1] 翟玉娥[1] 赵鹏[1] 田清武[1] 彭依群[2] 翟木绪[3] 

机构地区：[1]青岛大学附属医院检验科,山东青岛266555 [2]中南大学湘雅二医院代谢内分泌研究所,湖南长沙410011 [3]淄博市妇幼保健院内科,山东淄博255000

出　　处：《中国实验诊断学》2014年第10期1652-1657,共6页Chinese Journal of Laboratory Diagnosis

摘　　要：目的观察雌激素受体(ER)α和β基因多态与绝经后女性代谢综合征(MS)的关系。方法 311例无亲缘关系的绝经后MS患者和231例年龄相匹配的健康对照人群,采用聚合酶链反应-限制性片段长度多态性(PCRRFLP)技术,检测ERα(XbaⅠ、PvuⅡ)和β基因(RsaⅠ、AluⅠ)多态性,并采用SHEsis在线计算平台进行统计学分析。结果与对照组相比,MS患者体重、BMI、SBP、DBP以及血清FBS、GSP、TG水平显著高于对照组,而HDLC水平显著低于对照组(P<0.05);对照组和MS组PP、Pp、pp基因型和P、p等位基因分布频率分别为13.0%、52.8%、34.2%、39.4%、60.6%和9.3%、51.1%、39.5%、34.9%、65.1%,XX、Xx、xx基因型和X、x等位基因分布频率分别为4.3%、48.1%、47.6%、28.4%、71.6%和3.9%、39.2%、56.9%、23.5%、76.5%,AA、Aa、aa基因型和A、a等位基因分布频率分别为73.2%、24.7%、2.2%、85.5%、14.5%和74.0%、24.1%、1.9%、86.0%、14.0%,两组间上述三个酶切位点的基因型及等位基因分布频率均无显著差异(P>0.05);对照组和MS组RR、Rr、rr基因型和R、r等位基因分布频率分别为45.0%、44.6%、10.4%、67.3%、32.7%和54.7%、38.9%、6.4%、74.1%、25.9%,MS组RR基因型和R等位基因分布频率显著高于对照组,Rr、rr基因型和r等位基因分布频率显著低于对照组(P<0.05);单体型分析显示,R-A单体型在MS组所占的频率显著高于对照组(OR:1.405;95%CI:1.100-1.769;P<0.05),而r-A单体型所占频率显著降低(OR:0.700,95%CI:0.536-0.915;P<0.05)。结论 ERα基因多态性与绝经后女性MS无相关性,而ERβRsaⅠ酶切位点基因多态性与绝经后女性MS患者的遗传易感性有关,R等位基因可能是其易感等位基因,而r等位基因可能是其保护等位基因。Objective To observe the relationships between genetic polymorphisms of ERα,βand metabolic syn-drome in postmenopausal women.Methods Genotypes of 311 patients with MS and 231 control subjects from Physical Examination Center in our hospital were examined by polymerase chain reaction-based restriction fragment length poly-morphism.The results were analyzed by SHEsis on-line computing platform.Results Compared to the control group, body weight,BMI,SBP,DBP and serum level of FBS,GSP,TG were significantly increased and HDLC was significantly decreased in the patients with MS （P〈0.05）.PP,Pp,pp genotype frequencies and P,p allele frequencies were as fol-lows13.0%,52.8%,34.2%,39.4%,60.6% in control group and 9.3%,51.1%,39.5%,34.9%,65.1% in MS group;XX,Xx,xx genotype frequencies and X,x allele frequencies were as follows：4.3%,48.1%,47.6%,28.4%, 71.6% in control group and 3.9%,39.2%,56.9%,23.5%,76.5% in MS group;AA,Aa,aa genotype frequencies and A,a allele frequencies were as follows：73.2%,24.7%,2.2%,85.5%,14.5% in control group and 74.0%,24.1%, 1.9%,86.0%,14.0% in MS group;There was no significant difference in distribution frequency of genotype and allele for these three loci between these two groups（P〉0.05）.RR,Rr,rr genotype frequency and R,r allele frequencies were as follows：45.0%,44.6%,10.4%,67.3%,32.7% in control group and 54.7%,38.9%,6.4%,74.1%,25.9% in MS group;RR genotype and R allele frequency was significantly higher,and Rr,rr genotype and r allele frequency signifi-cantly lower in MS group than that in control group（P〈0.05）.haplotype analysis showed that R-A haplotypes were significantly higher and r-A haplotype significantly lower in MS group than that in control group（OR=1.405,0.700;95%CI：1.100-1.769,0.536-0.915;P〈0.05）.Conclusion genetic variants in the ERαgene may be not associated with＆amp;nbsp;MS susceptibility,but ERβgene polymorphism may play an important role in mediating susceptibility to developing MS.R allele may be one of its risk factors and r allele may be

关 键 词：代谢综合征 雌激素受体 基因多态性 单核苷酸 

分 类 号：R589[医药卫生—内分泌]