摘要
目的探讨绝经后女性雌激素受体β基因(estrogen receptor β,ESR2)CA重复序列多态性及G1082A多态性与骨密度的关系。方法随机数字表法抽取重庆地区绝经后女性200例,采用基因扫描及DNA测序技术分析ESR2基因CA重复序列多态性,采用多聚酶链反应-限制性片段长度多态性法分析ESR2基因G1082A多态性,使用双能X线骨密度仪测量股骨近端及腰椎骨密度。结果以CA重复序列平均数22次为界,将重复序列基因分为短基因(<22)和长基因(≥22),分别以S和L表示。200名绝经后女性中CA重复序列基因型SS、SL及LL的频率分别为25.0%、46.0%及29.0%;G1082A基因型rr、Rr及RR的频率分别为43.0%、42.0%及15.0%;基因型频率分布均符合Hardy-Weinberg平衡(P>0.05)。在校正年龄、绝经年限、身高、体质量和体质指数后,CA重复序列SS基因型者股骨颈骨密度较SL或LL基因型者高(P<0.01),其余部位(大转子、Wards三角和腰椎)各基因型骨密度无统计学差异(P>0.05);G1082A位点各基因型股骨颈、大转子、Wards三角及腰椎骨密度无统计学差异(P>0.05);这2个ESR2基因的多态性位点非连锁不平衡(P>0.05)。结论绝经女性中,ESR2基因第5内含子的CA重复序列多态性可能对骨密度的遗传调节起作用,而ESR2基因第5外显子的G1082A多态性可能对骨密度无明显影响。
Objective To investigate the association of CA repeat polymorphism and G1082A polymorphism of the estrogen receptor β （ESR2） gene with bone mineral density （BMD） in postmenopausal women. Methods Two hundred postmenopausal women who visited our out-patient clinic were enrolled. The CA repeat polymorphism of ESR2 gene was determined by gene scan and DNA sequence methods. The G1082A polymorphism of ESR2 gene was detected by polymerase chain reaction-restriction fragment length polymorphism. BMD for the proximal femur and lumbar spine （L2-L4 ） was measured by dual-energy X-ray absorptiometry. Results The （CA）, 〈22 and （CA）,≥22 alleles were designated as S and L, respectively. The frequency of genotypes in 200 postmenopausal women was as follows： SS （25.0%）, SL （46.0%）, LL （29.0%） for CA repeat polymorphism, and rr （43.0%）, Rr （42.0%）, RR （ 15.0% ） for G1082A polymorphism. The distribution of genotypes was in Hardy-Weinberg equilibrium. After adjusting for age, menopausal period, height, weight and body mass index, BMD was higher in postmenopausal women with SS genotype than SL or LL genotype for CA repeat polymorphism at femoral neck （ P 〈0.01 ）, but there was no significant difference in BMD of trochanter, Wards triangle and lumbar spine for different genotypes （ P 〉 0.05 ）. In different genotypes for G1082A polymorphism, there was no significant difference in BMD of each skeletal region （ P 〉 0.05 ）. The ESR2 polymorphism was not in linkage disequilibrium （ P 〉 0.05 ）. Conclusion In postmenopausal women, CA repeat polymorphism in the fifth intron of the ESR2 gene may contribute to the genetic regulation of BMD, but the G1082A polymorphism in the fifth exon of the ESR2 gene may not significantly affect BMD.
出处
《第三军医大学学报》
CAS
CSCD
北大核心
2008年第4期333-336,共4页
Journal of Third Military Medical University
关键词
雌激素受体β基因
遗传多态性
骨密度
骨质疏松症
estrogen receptor β gene
genetic polymorphism
bone mineral density
osteoporosis
