雌激素受体2基因多态性与绝经后女性骨密度的相关性研究  

Estrogen receptor beta gene polymorphisms is correlated with bone mineral density in postmenopausal women

作　　者：欧文君[1] 姚珍薇[1] 骆建云[1] 韩力力[1] 卢起[1] 

机构地区：[1]重庆医科大学附属第一医院妇产科,重庆400016

出　　处：《第三军医大学学报》2010年第1期81-84,共4页Journal of Third Military Medical University

摘　　要：目的探讨雌激素受体2(estrogen receptor beta,ESR2)基因的单核苷酸多态性(single nucleotide polymorphism,SNP)与绝经后女性的骨密度(bone mineral density,BMD)是否相关。方法使用双能X线骨密度仪测量重庆市140例绝经后女性第2～4腰椎(L2～L4)及左股骨颈BMD值。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析ESR2基因第5外显子T1057G和G1082A及第8外显子G1730A SNPs。结果在全部受试者中,ESR2基因第5外显子1057T位点仅检测到VV1种基因型;G1082A基因型RR、Rr及rr频率分别为81.43%、17.14%及1.43%;G1730A基因型AA及Aa频率分别为87.86%及12.14%,aa基因型缺失;G1082A和G1730A SNPs的基因型分布符合Hardy-Weinberg平衡(P>0.05)。校正年龄、体质量、绝经年限等BMD影响因素后,G1082A SNP与L2和L4BMD显著相关(P<0.05),而与L3及股骨颈BMD无明显关联(P>0.05);G1730ASNP与股骨颈BMD显著相关(P<0.01),而与腰椎BMD无明显关联(P>0.05)。结论绝经后女性ESR2基因第5外显子G1082ASNP的r等位基因可能是腰椎低BMD的独立危险因素;第8外显子G1730A SNP的a等位基因可能是股骨颈低BMD的独立危险因素。Objective To investigate whether single nucleotide polymorphisms （SNPs） of estrogen receptor beta （ESR2） gene were correlated with bone mineral density （BMD） in postmenopausal Chinese women. Methods Totally 140 postmenopausal women at the age of （54.58 ± 5.85 ） who living in Chongqing for at least 10 years received BMD measuring in our department from March to October 2007. BMD was measured at the lumbar spine （L2 to L4 ） and left hip （including the femoral neck, trochanter and Ward＇ s triangle） by dual energy X-ray absorptiometry. Three SNPs of ESR2 gene, including the T1057G and G1082A SNPs in the fifth exon and G1730A SNP in the eighth exon, were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results In all subjects, only VV genotype was detected for the 1057T locus in the fifth exon. The distribution of G1082A genotypes was RR （81.43%） , Rr（ 17.14% ） and rr （ 1.43% ）. And of GI730A the genotypes were AA （87.86%） and Aa （ 12.14% ）, while the genotype aa was absent. The distribution of G1082A and G1730A genotypes was in Hardy-Weinberg equilibrium （P 〉 0.05）. After adjusting for age, weight, menopausal period and other influential factors for BMD, G1082A SNP was significantly associated with L2 and L4 BMD （P 〈 0.05） , but not associated with L3 and femoral neck BMD （P 〉 0.05）. G1730A SNP was significantly associated with the femoral neck BMD （P 〈 0.01 ） , but not associated with the lumbar spine BMD （P 〉0.05）. Conclusion In postmenopausal women, r allele of G1082A SNP in the fifth exon of the ESR2 gene may be an independent risk factor of lower spine BMD, while a allele of G1730A SNP in the eighth exon may be an independent risk factor of lower femoral neck BMD.

关 键 词：雌激素受体2基因 单核苷酸多态性 骨密度 聚合酶链反应-限制性片段长度多态性 

分 类 号：R322.71[医药卫生—人体解剖和组织胚胎学] R394.1[医药卫生—基础医学]