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

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);G1730ASN...

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

Objective To investigate whether single nucleotide polymorphisms(SNPs)of estrogen re-ceptor 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 meas-ured at the lumbar spine(L_2 to L_4)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 G1 730A SNP in the eighth exon,were detected by polymerase chain reaction-restriction flag-ment 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 G1730A 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 sig-nificantly associated with L_2 and L_4 BMD(P<0.05),but not associated with L_3 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 BM D,while a allele of G1730A SNP in the eighth exon may be an independent risk factor of lower femoral neck BMD.