北京地区汉族成人甲状旁腺素基因多态性与骨矿盐密度的相关性

目的：研究北京地区健康汉族成人甲状旁腺素（PTH）基因的多态性分布以及PTH基因型与年轻及绝经后妇女骨矿盐密度（BMD）的相关性。方法：对270名研究对象基因组DNA样品作限制笥内切酶Bst B1的聚合酶链反应限制性片段长度多态性检测,以确定他们的PTH基因型,部分PTH基因型经DNA序列测定证实（以“B”表示具有BstB1酶解位点,b表示缺乏该酶解位点）,采用双能X射线骨密度仪测量腰椎及髋部的BMD,结果：北京地区汉族人群PTH基因BB,Bb,bb型的频率分别为73．7％,25．9,0．4％,等位基因B,b频率分别为86．7％,13．3％,绝经后妇女BB,Bb,bb型的频率分别为67．1％,32．2％,0．7％,等位基因B,b频率分别为83．2％及16．8％。年轻妇女与绝经后妇女BB与Bb基因型组间其腰椎2－4,股骨颈,Wards三角及大转子部位BMD差异均无显著性（P＞0．05）,相关性分析表明PTH基因型与BMD无明显相关性（P＞0．05）,结论：北京地区汉族妇女PTH基因型与腰椎2－4,股骨颈,Wards三角及大转子BMD均无明显相关性。     

甲状旁腺激素基因多态性与广东地区汉族女性骨密度的关系

目的探讨甲状旁腺素(parathyroid hormone,PTH)基因多态性与广东地区部分汉族女性人群骨密度(bone mineral density,BMD)的相关性。方法选取广东成年女性617例,年龄30～75岁,平均(47.82±13.57)岁,用聚合酶链反应及限制性片段长度多态性技术检测外周血白细胞基因组护骨素基因型,采用双能X线吸收测定其腰椎侧位、股骨颈、粗隆间、大转子、ward s三角等部位的骨密度值。结果617例受试对象中,PTH基因BB型447例(72.4%);Bb型157例(25.4%);和bb型13例(2.1%)。绝经前妇女PTH基因多态性频率与绝经后妇女比较差异无统计学意义。无论是整个受试群体,还是将其分为绝经前及绝经后群体,其基因及基因型分布均符合Hardy-Wenbeng平衡定律。经协方差分析校正了年龄、体质指数等因素后(对绝经后妇女人群,同时对绝经年限进行校正)发现,3种不同的基因型相互之间的BMD变化均差异无统计学意义(P>0.05)。结论PTH基因多态性与广东地区汉族妇女人群BMD关系不密切,不能作为筛查和预示骨质疏松症的遗传易感位点。     

中国长春地区绝经前汉族女性维生素D受体基因多态性与骨代谢指标的关系

目的：了解维生素D受体（VDR）基因多态性中国长春地区的分布,并进一步探讨其与骨代谢的关系。 方法：应用聚合酶链反应-限制性片段长度多态性解析（PCR-RFLPs）技术检测了186例长春地区生活10年以上无亲缘关系的绝经前健康汉族女性VDR基因型,用放射免疫法测血清骨钙素（BGP）,用双能X线骨密度仪（DEXA）测腰椎骨密度（BMD）,同时分析VDR基因型与BGP和BMD之间的关系。 结果：本组186例中VDR基因型Bb 23例（12.4%）、bb 163例（87.6%）、BB型缺如,等位基因b频率高达93.8%。比较两种基因型的BGP和BMD值无统计学差异（P>0.05）。 结论：中国长春地区绝经前健康汉族女性的VDR基因的BsmI多态性与BGP和骨BMD间无相关关系。     

福州地区汉族妇女绝经后维生素D受体基因Bsm Ⅰ多态性与骨密度的关系

目的 观察福州地区绝经后汉族妇女维生素D受体(VDR)基因Bsm Ⅰ多态性分布,研究其与骨密度(BMD)的关系.方法 选择福州地区绝经后汉族妇女290例,检测正位第2～4腰椎、左侧股骨颈、大转子和Ward,s区骨密度,应用聚合酶链式反应一限制性片段长度多态性(PCR-RFLP)检测维生素D受体基因Bsm Ⅰ多态性.结果 VDR基因型分别为.BB型7例(2.4%),Bb型39例(13.5%),bb型244例(84.1%).b等位基因频率90.9%,B等位基因频率9.1%,基因型分布符合Hardy-Weinberg定律.分析基因型与骨密度的关系,BB、Bb与bb3种基因型在腰椎、股骨颈、大转子、Ward's区4个部位的骨密度差别无统计学意义(P>0.05);b或B等位基因与四部位骨密度无相关性(P>0.05).结论 维生素D受体基因Bsm Ⅰ多态性与BMD间无关联,不能作为预测福州地区绝经后妇女发生骨质疏松危险性的遗传标志.     

绝经后妇女PTH DraⅡ多态性与骨代谢相关性分析

目的探讨绝经后妇女甲状旁腺素(parathyroid hormone,PTH)基因DraⅡ位点多态性的分布及其与骨代谢、骨密度(bone mineral density,BMD)的关系。方法选取上海地区无亲缘关系的绝经后汉族妇女210例,其中OP组120例、健康对照组90例。应用聚合酶链反应—限制性酶切片段长度多态性分析(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)技术检测PTH基因多态性,双能X线吸收仪检测正位腰椎(L2-4)及股骨颈BMD,同时检测骨代谢指标如抗酒石酸酸性磷酸酶-5b(tartrate-resistant acid phosphatase,TRACP-5b)、血清骨碱性磷酸酶(bone alkaline phosphatase,BALP)。结果与健康对照组相比,骨质疏松组的骨代谢指标TRACP-5b、BALP值明显升高(P<0.01),骨质疏松组的腰椎L2-4、股骨颈BMD值明显降低(P<0.01)。骨质疏松组PTH基因型与TRACP-5b、BALP及骨密度无关。结论绝经后妇女PTH基因DraⅡ位点多态性可能不是影响BMD的易感基因。     

123甲状旁腺激素基因多态性多态性与中国广东地区汉族女性BMD的关系

目的： 探讨甲状旁腺素( PTH)基因多态性与中国广东地区部分汉族女性人群骨密度的相关性。方法： 选取广东成年女性617例,年龄30～75岁 ,平均47.82( S=13.57）岁,用聚合酶链反应及限制性片段长度多态性技术检测外周血白细胞基因组护骨素基因型,采用双能X线吸收测定其腰椎侧位、股骨颈、粗隆间、大转子、ward's三角等部位的骨密度值。结果： 617例受试对象中, PTH基因BB型447例,72.4%;Bb型157例,25.4％;和bb型13例,2.1％。绝经前妇女PTH基因多态性频率较绝经后妇女无差异。无论是整个受试群体,还是将其分为绝经前及绝经后群体,其基因及基因型分布均符合Hardy-Wenbeng平衡定律。经协方差分析校正了年龄、体质指数等因素后（对绝经后妇女人群,同时对绝经年限进行校正）, 发现,三种不同的基因型相互之间的骨密度变化均无统计学意义 (p>0.05)。结论：甲状旁腺素( PTH)基因多态性与广东地区汉族妇女人群骨密度关系不密切,不能作为筛查和预示骨质疏松症的遗传易感位点。     

女性血清瘦素水平与骨转换指标和骨密度的关系

目的:探讨女性人群瘦素(leptin)与骨转换生化指标血清骨钙素(sOC)、血I型胶原氨基末端肽(sNTX)和尿I型胶原氨基末端肽(uNTX)及骨密度(BMD)之间的关系。方法:用ELISA测定leptin、sOC、sNTX和uN-TX,用DXA仪测定腰椎(AP)L1-L4、股骨颈(FN)的BMD。结果:(1)直线相关分析显示,血清leptin与年龄、体重和体重指数呈正相关(P<0.001),血清leptin随年龄和体重指数的变化均以三次模型拟合最优。(2)血清leptin与sOC和sNTX相关无显著性,与uNTX/Cr呈负相关(r值为-0.093,P<0.05),但用年龄和体重指数校正后,其与uNTX/Cr的相关无显著性。(3)血清Leptin与腰椎正位和股骨颈BMD相关均无显著性,年龄和体重指数校正后sOC、sNTX和uNTX/Cr仍与各部位BMD呈负相关(P<0.001)。结论:leptin虽然参与骨重建的调节,但血清leptin并不是骨代谢和骨密度的直接影响因素。     

福州地区汉族妇女绝经后维生素D受体基因Bsm I多态性与骨密度的关系

目的观察福州地区绝经后汉族妇女维生素D受体（VDR）基因Bsm I多态性分布，研究其与骨密度（BMD）的关系。方法选择福州地区绝经后汉族妇女290例，检测正位第2～4腰椎、左侧股骨颈、大转子和Ward’s区骨密度，应用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）检测维生素D受体基因Bsm I多态性。结果VDR基因型分别为BB型7例（2．4％），Bb型39例（13．5％），bb型244例（84．1％）；b等位基因频率90．9％，B等位基因频率9．1％，基因型分布符合Hardy-Weinberg定律。分析基因型与骨密度的关系，BB、Bb与bb3种基因型在腰椎、股骨颈、大转子、Ward’S区4个部位的骨密度差别无统计学意义（P〉0．05）；b或B等位基因与四部位骨密度无相关性（P〉0．05）。结论维生素D受体基因BsmI多态性与BMD间无关联，不能作为预测福州地区绝经后妇女发生骨质疏松危险性的遗传标志。     

广州地区绝经前妇女维生素D受体基因多态性与骨密度无关

目的 研究广州地区绝经前妇女维生素D受体基因多态性的分布及其与骨密度的关系.方法 应用聚合酶链反应-限制性片段长度多态性等技术检测193例绝经前广州地区妇女维生素D受体基因型,用双能X线骨密度仪测量腰椎、股骨颈、瓦氏三角、大转子等处骨密度.结果 193例测试对象中,维生素D受体基因型分别为bb型120例(62.2%)、Bb型64例(33.2%),BB型9例(4.6%);b等位基因频率为78.76%,B等位基因频率为21.24%.基因分布符合Hardy-Weinberg定律,其基因型与所测量部位的骨密度无关.结论 未观察到绝经前妇女维生素D受体基因型与骨密度有关,维生素D受体基因BsmI多态性还不能作为预测广州地区绝经前妇女是否易患骨质疏松危险性的遗传标志物.     

降钙素受体基因多态性与上海地区妇女骨密度的关系

目的探讨降钙素受体(calcitoninreceptor,CTR)基因多态性与绝经前和绝经后妇女骨密度(bonemineraldensity,BMD)之间的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerasechainreaction-restrictionfragmentlengthpolymorphism,PCR-RFLP)方法,对上海地区184名绝经前和199名绝经后妇女进行CTR基因型的检测。应用双能X线骨密度仪(dual-energyX-rayabsorptiometry,DEXA)测定腰椎和股骨颈BMD。结果383名上海地区妇女CTR基因型频率分布依次为CC型占83.8%,TC型14.6%,TT型1.6%。在绝经后妇女组,CC型的股骨颈BMD明显高于TC和TT型(P<0.01),而在绝经前组不同基因型的各部位BMD无差别。多元逐步回归分析提示,CTR基因型与绝经后妇女股骨颈BMD相关(P<0.05)。结论CTR基因多态性与绝经后妇女BMD存在一定的关联。     

Estrogen receptor gene polymorphisms and bone mineral density in Chinese postmenopausal women

Objective To investigate the relationships between the polymorphisms of estrogen receptor (ER) gene, bone mineral density (BMD) and bone biochemical markers in Chinese postmenopausal women. Methods BMD of lumbar spine and femoral neck were measured using dual-energy X-ray absorptiometry （DEXA）in 186 Chinese postmenopausal women. The PvuⅡ and XbaⅠ polymorphisms of the ER gene were detected using polymerase chain reaction (PCR). Bone biochemical markers, serum alkaline phosphatase, osteocalcin and pyridinoline were measured by ELISA. Results The femoral neck(FN) BMD (Z score) was higher in pp compared to Pp (-0.01±0.12 vs. -0.35±0.09, P&lt;0.05) while lumbar spine BMD (Z score) was higher in XX type compared to Xx and xx genotypes (0.01±0.45 vs -1.53±0.17, -1.29±0.10, P&lt;0.001 and 0.001, respectively). Women without Px haplotype (n=79) had a higher BMD Z-score for the lumbar spine (-1.03±0.14 vs -1.45±0.11, P&lt;0.05) and femoral neck (-0.01±0.11 vs -0.31±0.09, P&lt;0.05) than those who had it (n=107). Conclusions The present study suggested that the pp and XX genotypes of ER gene might play a certain role in maintaining FN and lumbar spine BMD. ER genotypes without Px haplotype might be favorable to bone mass, while those with it might exert some harmful effect on bone mineral density.     

ASSOCIATION OF PARATHYROID HORMONE GENE POLYMORPHISM WITH BONE MINERAL DENSITY IN CHINESE WOMEN

Osteoporosisisametabolicbonediseasecharacter-izedbylowbonemineraldensity(BMD),thedeterioratedmicrostructure,highbonefragility,andincreasedriskoffracture.BMDisdeterminedbythepeakbonemass(PBM)reachedinyoungperiodandbonelossrateinlaterlife.FamilyandtwinresearchshowsthatPBM,BMDaresignificantlyrelatedtoinheritancefactors(1,2).MorrisonreportedtheassociationofVitaminDreceptorgene(VDR)polymorphismwithBMDfirstlyin1994(3).However,itisstillcontroversialbecauseofvariousresultsindifferentcountries…     

绝经后妇女雌激素受体基因Px单倍型对骨密度的影响

目的 探讨绝经后妇女雌激素受体基因（ER）多态性与骨密度（BMD）和骨生化指标之间的关系。方法 用双能X线骨密度仪（DEXA）检测186名绝经后妇女的腰椎和股骨颈的BMD（Z值）,以PCR－RFLP的方法检测ER基因PvuⅡ和XbaI多态性,同时测定血清碱性磷酸酶（AKP）、骨钙素（BGP）和尿吡啶酚（Pyd)。结果 pp型（14．5％）股骨颈BMD高于Pp型（50．0％）;XX型（7．0％）的腰椎BMD高于Xx型（27．4％）和xx型（65．6％）,无Px单倍型的妇女腰椎和股骨颈BMD明显高于有Px单倍型的妇女,其血清AKP更低。结论 ER基因pp和XX基因型分别对股骨颈和腰椎骨量的维持有一定意义,无Px单倍型的ER基因型可能对BMD有益,而Px单倍型可能对骨量有不利影响。     

Association Between Geranylgeranyl Pyrophosphate Synthase Gene Polymorphisms and Bone Phenotypes and Response to Alendronate Treatment in Chinese Osteoporotic Women△

Objective To investigate the relationship between geranylgeranyl pyrophosphate synthase (GGPPS) genepolymorphisms and bone response to alendronate in Chinese osteoporotic women.
Methods A total of 639 postmenopausal women with osteoporosis or osteopenia were included and randomly received treatment of low dose (70 mg per two weeks) or standard dose (70 mg weekly) of alendronate for one year. The six tag single nucleotide polymorphisms ofGGPPSgenewere identified. Bone mineral density (BMD), serum cross-linked C-telopeptide of type I collagen (β-CTX), and total alkaline phosphatase (ALP) were measured before and after treatment.GGPPS gene polymorphisms and the changes of BMD and bone turnover markers after treatment were analyzed.
Results rs10925503 polymorphism ofGGPPS gene was correlated to serumβ-CTX levels at baseline, and patients with TT genotype had significantly higher serumβ-CTX level than those with TC or CC genotype (allP<0.05). No correlation was found between polymorphisms ofGGPPS gene and serum total ALP levels, as well as BMD at baseline. After 12 months of treatment, lumbar spine and hip BMD increased and serum bone turnover markers decreased significantly (P<0.01), and without obvious differences between the low dose and standard dose groups (allP>0.05). However,GGPPSgene polymorphisms were uncorrelated to percentage changes of BMD, serum total ALP, andβ-CTX levels (allP>0.05).
ConclusionGGPPS gene polymorphisms are correlated to osteoclasts activity, but all tag single nucleotide polymorphisms ofGGPPS gene have no influence on the skeletal response to alendronate treatment.     

Vitamin D receptor gene polymorphism and bone mineral density in patients with type 2 diabetes mellitus

Objective To explore the relationship between vitamin D receptor (VDR) gene polymorphisms and bone mineral density (BMD) in patients with type 2 diabetes mellitus (DM) an d to better understand the pathogenesis of osteoporosis. Methods Ninety seven patients with type 2 DM were recruited for this study. BMD was mea sured by single photon absorptiometry at the lower one third of the nondominant radius and ulna. Polymorphisms of the VDR gene were analyzed by DNA amplificati on with polymerase chain reaction (PCR) and endonuclease digestion with Bsm Ⅰ. Results The respective frequencies of VDR genotypes were BB 18. 6%, Bb 27. 8% and bb 53 . 6%. The Z scores of the three groups were -1. 57±-0. 60, -1. 45±-0. 67 and -1. 41±-0. 81, respectively. Although the BMD of the Bb genotype DM patients was higher than that of BB genotype DM patients and lower than that of bb genoty pe DM patients, there were no significant differences. Conclusion These findings suggest a small influence of VDR gene polymorphism on the BMD of patients with type 2 DM. Further study on the value of VDR genotypes in the pat hogenesis of osteoporosis in diabetes mellitus is still needed.     

绝经后妇女维生素 D 受体基因多态性与骨密度的关系

目的：探讨广州市绝经后妇女维生素Ｄ受体（ＶＤＲ）基因多态性与骨密度关系,方法：选绝经后妇女１３８例,用分子生物学技术,限制性内切酶片段长度多态性（ＲＦＬＰ）检测ＶＤＲ基因,用双能Ｘ线骨密度仪（ＤＥＸＡ）测定其Ｌ２～４,颈、Ｗａｒｄ’Ｓ等部位的骨密度。结果：ＶＤＲ基因ＢＢ、ｂｂ、Ｂｂ分别占５．０７％、５３．６３％、４１．３０％。绝经后妇女ＶＤＲ基因型发生骨质疏松（ＯＰ）分别为：ＢＢ占８５．７％、ｂｂ