首页 | 本学科首页   官方微博 | 高级检索  
检索        

维生素D受体基因起始密码和3‘端多态性与绝经后妇女骨密度的关系
引用本文:章振林,赵金秀,等.维生素D受体基因起始密码和3‘端多态性与绝经后妇女骨密度的关系[J].中华医学遗传学杂志,2003,20(1):5-8.
作者姓名:章振林  赵金秀
作者单位:中国医学科学院中国协和医科大学北京协和医院内分泌科 100730北京200233上海市第六人民医院骨质疏松科(章振林),中国医学科学院中国协和医科大学北京协和医院内分泌科 100730北京(赵金秀,孟迅吾,周学瀛,邢小平),中国医学科学院中国协和医科大学北京协和医院内分泌科 100730北京(夏维波)
基金项目:国家自然科学基金 (39670 794)~~
摘    要:目的:了解维生系D受体(vitamin d receptor,VDR)基因起始密码多态性和3'端多态性对北京地区汉族绝经后妇女骨密度(bone mineral density,BMD)值的影响是否具有协同作用。方法:应用聚合酶链反应-限制性片段长度多态性检测了110绝经后妇女VDR基因Fok 1和3'端多态性,同时用双能X线吸收法测定绝经后妇女腰椎2-4(L2-4)、股骨颈、Ward's三角和大转子区的BMD值。结果:被研究人群Fok I、Apa I、Bsm I和Taq I等位频率分布均符合Hardy-Weinberg定律。单独分析各基因型与绝经后妇女BMD值的关系,仅显示Bsm I基因型与BMD值有关联(P<0.05);协同分析Fok I基因型和Apa I、Bsm I、Taq I基因型与BMD值的关系,显示Fok I-Apa I基因型与绝经后妇女L2-4 BMD值显著相关(P<0.001),而未见Fok I-Bsm I基因型与绝经后妇女各部位BMD值的关联,Fok I-Taq I基因型与股骨颈和大转子区部位BMD值有关联(P<0.05)。此外,未发现VDR基因3'端多态性之间与各部位的BMD值有关联。结论:VDR基因Fok I多态性虽然与绝经后妇女BMD值无关联,但Fok I多态性和3'端多态性(Apa I和Taq I)对绝经后妇女BMD值的影响具有协同作用。

关 键 词:维生素D受体基因  起始密码  3‘端多态性  绝经后妇女  骨密度  骨质疏松  遗传多态性
修稿时间:2002年3月28日

Association of polymorphisms of vitamin D receptor gene start codon and 3'-end region with bone mineral density in postmenopausal women]
ZHANG Zhen lin,ZHAO Jin xiu,MENG Xun wu,ZHOU Xue ying,XING Xiao ping,XIA Wei bo..Association of polymorphisms of vitamin D receptor gene start codon and 3''-end region with bone mineral density in postmenopausal women][J].Chinese Journal of Medical Genetics,2003,20(1):5-8.
Authors:ZHANG Zhen lin  ZHAO Jin xiu  MENG Xun wu  ZHOU Xue ying  XING Xiao ping  XIA Wei bo
Institution:Department of Endocrinology, PUMC Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, PR China. zhenlinz66@yahoo.com.cn
Abstract:OBJECTIVE: To determine whether vitamin D receptor(VDR) gene start codon polymorphisms and 3'-end region polymorphisms exerted a combined influence on bone mineral density(BMD) in Han postmenopausal women in Beijing area. METHODS: The VDR Fok I and 3'-end region genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism in 110 unrelated postmenopausal women. BMD was measured at the lumbar spine (L(2-4)), femoral neck(Neck), Ward's triangle(Ward's) and trochanter (Troch) using duel-energy X-ray absorptiometry. RESULTS: The frequencies distribution of Fok I, Apa I, Bsm I and Taq I alleles in this cohort all followed the Hardy-Weinberg equilibrium. No significant association of Fok I, Apa I or Taq I genotype with BMD in postmenopausal women was found when these polymorphisms were considered independently, except for Bsm I genotype. When a combined analysis of VDR gene Fok I and 3'-end region polymorphisms was carried out, cross-genotyping Fok I and Apa I polymorphisms was significantly associated with BMD at the L(2-4) (P<0.001), and cross-genotype of Fok I and Taq I was also significantly associated with BMD at the Neck and Troch sites (P<0.05). However, cross-genotyping Fok I and Bsm I polymorphisms was not significantly associated with BMD. Cross-genotyping Apa I and Bsm I or Taq I polymorphisms was not associated with BMD in postmenopausal women, either. CONCLUSION: Although Fok I polymorphisms of VDR gene were not significantly associated with BMD in postmenopausal women, VDR gene Fok I and 3'-region polymorphisms (Apa I and Taq I) had a combined effect on the BMD in postmenopausal women.
Keywords:vitamin D receptor gene  start codon  genetic polymorphism  bone mineral density  
本文献已被 CNKI 维普 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号