雌激素受体基因多态性与中国女性骨密度关系研究

目的：研究雌激素受体（ER）a基因多态性与中国女性骨密度关系。方法：采用双能X线吸收仪对288名女性研究对象进行腰椎及股骨扫描，应用PCR-限制性片段长度多态性（PCR-RFLP）方法检测ER基因PvuⅡ和XbaⅠ两多态位点基因型，用广义线性模型分析两位点多态性与腰椎2～4及股骨骨密度关系。结果：在调整环境危险因素后。显示ER基因的XbaⅠ位点XX基因型与腰椎2～4的骨密度增高呈显著性相关（P=0．045）；在调整环境危险因素后ER基因单倍型与腰椎及股骨骨密度无显著相关性。结论：基因XbaⅠ位点多态性与中国女性腰椎骨密度相关。     

雌激素受体基因多态性与男性骨密度关系

目的 研究雌激素受体（ER）α基因多态性与中国男性骨密度关系。方法 采用双能X线吸收仪对339名男性研究对象进行腰椎及股骨扫描，应用PCR-限制性片段长度多态性（PCR—RFLP）方法检测ER—α基因PvuⅡ和XbaⅠ两多态位点基因型，用广义线性模型分析两位点多态性与腰椎及股骨骨密度关系。结果 在调整环境危险因素后。显示ER基因的XX基因型与股骨柄、股骨三角区的骨密度增高呈显著相关，差异有统计学意义（P值分别为0．004和0．036）；Pp基因型与股骨柄骨密度增高有相关趋势，但差异无统计学意义（P=0．064）；XP单倍型与股骨柄骨密度增高有相关的趋势，但差异无统计学意义（P=0．053）。结论 ER—α基因XbaⅠ位点多态性与男性股骨骨密度相关。PvuⅡ位点多态性和XP单倍型与股骨骨密度关系还需进一步扩大样本量研究。     

中国北方绝经前妇女低密度脂蛋白受体相关蛋白5基因多态性与骨密度关系研究

目的探讨中国北方绝经前妇女低密度脂蛋白受体相关蛋白5(LRP5)基因Q89R、A1330V多态性与骨密度关系。方法选取哈尔滨市283例无亲缘关系20~50岁汉族绝经前妇女作为研究对象。采用食物频率法调查所有研究对象膳食钙的摄入量,测定研究对象钙营养相关的血清学指标和激素水平,包括血清钙、血清磷、碱性磷酸酶、甲状旁腺激素、降钙素、25(OH)D3、1,25(OH)2D3水平,以及骨密度(双能X线)的测定。应用PCR-RFLP法检测研究对象LRP5基因Q89R、A1330V位点多态性。结果研究对象QQ、QR、AA和AV基因型频率分别为83·4%、16·6%、64·3%和35·7%。不同基因型之间各项血清生化指标和激素水平之间差异均无显著性。逐步回归分析显示影响绝经前妇女最主要的因素为体重,其次为年龄、LRP5基因,LRP5基因A1330V多态性与腰椎骨密度有关(P=0·012);LRP5基因Q89R多态性与股骨体和总髋骨的骨密度有关(P值分别为0·033、0·034)。结论LRP5基因多态性是中国北方绝经前妇女骨密度水平的预测因素,不同部位的骨密度水平受LRP5基因不同多态性位点的调节。     

哈尔滨男性LRP5、VDR基因多态性与骨密度关系

目的探讨哈尔滨男性居民低密度脂蛋白受体相关蛋白5（LRP5）基因Q89R、A1330V和维生素D受体（VDR）基因FokⅠ多态性与骨密度关系。方法选取哈尔滨市132例无亲缘关系20～55岁汉族男性作为研究对象，检测其膳食钙的摄入量，测定血清生化指标、激素水平和骨密度（双能X线）。应用PCR-限制性片段长度多态性（PCR—RFLP）法检测LRP5基因Q89R、A1330V、VDR基因FokⅠ多态性。结果不同基因型之间血清生化各项指标、各项激素水平差异均无统计学意义。Q89R基因型与股骨颈（NECK）校正后的骨密度呈显著相关（P=0．047），与Ward三角（WARD）和大转子区（TROCH）骨密度有相关趋势（P值分别为0．073和0．081），而FokⅠ和A1330V基因多态性与骨密度无相关性。未发现这3个位点的基因型对骨密度有联合作用。结论LRP5基因Q89R多态性可能影响哈尔滨市男性NECK部位的骨密度。     

NRAMP1基因INT4和3’UTR位点多态性与肺结核易感性的研究

目的 探讨人类自然抵抗相关巨噬细胞蛋白1（NRAMP1）基因INT4和3＇UTR位点多态性与中国北方汉族成人肺结核发病的关系.方法 采用1：1配对的病例对照研究设计,用聚合酶链反应-限制性片段长度多态性分析方法检测NRAMP1基因中INT4和3＇UTR两个多态性位点,对与肺结核相关的危险因素进行问卷调查,进行单因素和多因素条件logistic回归分析,同时对基因型与肺结核病变的性质和程度进行研究.结果 对124对研究对象进行了INT4和3＇UTR两个多态性位点的基因分型,3＇UTR TGTG＋/del基因型病例组频率显著高于对照组,粗OR值（95%CI）为2.923（1.557～5.487）.病例组和对照组INT4各基因型频率比较差异均无统计学意义.对17个环境危险因素进行了单因素分析,在多因素分析中调整卡痕、体重指数、人均居住面积、家族史4个因素后,3＇UTR TGTG＋/del基因型仍与肺结核显著相关,调整OR值（95%CI）为2.955（1.369～6.381）.在INT4不同基因型中,病例组和对照组肺结核病变性质差异具有统计学意义（x2=9.634,P＜0.05）.结论 NRAMP1基因3＇UTR位点多态性可能是中国北方汉族成人肺结核的易感因素,而INT4多态性可能与肺结核的病变性质有关系.     

维生素D受体基因起始密码子多态性与体力活动对青春期女童骨量增长的交互作用

目的 探讨维生素D受体(VDR)基因起始密码子(Fok I位点)多态性与体力活动对青春期女童骨量增长的交互作用.方法 选择228名9～11.5岁未月经初潮的健康女童进行2年追踪,应用双能X线骨密度仪检测对象追踪前后全身、左侧近端股骨(包括股骨颈、大转子、粗隆间和华氏三角区)和L1～L4腰椎骨密度,应用PCR-RFLP技术检测VDR基因Fok I位点多态性.结果 本次研究的有效观察人数为176名.Fok I位点多态性与骨密度(BMD)2年增长率没有关联.在低体力活动水平(<1197 kJ/d)时,FF基因型女童左侧近端股骨骨密度(THBMD)和股骨颈骨密度(FNBMD)增长率低于Ff+ff基因型女童,差异有统计学意义;体力活动与THBMD和FNBMD增长率有关联,但仅限于FF基因型女童.结论 VDR基因Fok I多态性与体力活动水平对青春期女童骨量增长存在交互作用,低体力活动水平的FF基因型女童可能是骨量增长较低的危险人群,体力活动能促进FF基因型女童骨量增长.     

子痫前期患者对氧磷酶基因多态性研究

目的 研究对氧磷酶1(PON1)基因R192Q位点、对氧磷酶2(PON2)基因C311S位点多态性与子痫前期(PE)发病的关系.方法 应用聚合酶链反应(PCR)、限制性片段长度多态性(RFLP)方法分析PE组(73例)和健康孕妇组(66例)PON1基因多态性.结果 PE组和健康孕妇组PON1的基因型变异频率和R、Q等位基因频率差异均有统计学意义;PON2基因型变异频率和C、S等位基因频率差异亦有统计学意义.结论 PON1 R192Q位点多态性与PE发病有关,R等位基因可能是易感基因;PON2 C311S位点多态性与PE发病有关,C等位基因可能是易感基因.     

Gli基因多态性与新生儿呼吸系统疾病的关联研究

目的:研究Gli基因G933D位点及E1100Q位点多态性与新生儿呼吸系统疾病的关联。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对121例患呼吸系统疾病新生儿和98例健康新生儿的Gli基因G933D位点及E1100Q位点的多态性进行了检测,比较两组各自的基因型分布频率。结果:G933D的AA、GG和GA基因型在疾病组中分别为46.30%、53.70%和0,在对照组中分别为62.20%、30.60%和7.10%。两组的分布频率差异有统计学意义(χ2=17.89,P<0.05)。E1100Q位点的CC、GG和GC基因型在疾病组中分别为0.82%、57.02%、42.15%,在对照组中分别为4.08%、39.80%、56.12%。两组的分布频率差异无统计学意义(χ2=2.59,P>0.05)。结论:Gli基因G933D位点的基因多态性分布差异与新生儿呼吸系统疾病易患性间具有一定程度的关联,Gli基因G933D位点的A/A、G/A基因型可能为新生儿呼吸系统疾病的保护基因;未发现E1100Q位点基因多态性与新生儿呼吸系统疾病存在关联。     

护骨素基因G1181C多态性与河南地区汉族男性骨密度关系的研究

目的研究护骨素基因G1181C多态性与河南地区汉族男性骨密度之间的关系。方法选取197名河南地区汉族男性,采用PCR和直接测序法,研究OPGG1181C不同基因型之间骨密度值的关系,以确定OPG是否为河南地区汉族男性骨质疏松易感的候选基因。结果骨质疏松组、骨量减少组与对照组相比,GG、GC、CC三种基因型的分布频率、G个C等位基因分布频率均无显著性差异(P>0.05);护骨素基因G1181CGG、GC和CC三个基因型组间L1-4及总骨密度值大小无显著性差异;GC和CC合并后与GG型的L1-4及总骨密度值相比无显著性差异;GG和GC合并后与CC型相比较,L1和总骨密度值有差异(P<0.05),L2、L3和L4骨密度值无显著性差异。结论护骨素基因G1181C多态性与河南地区汉族男性L1椎体和总骨密度值有关,提示护骨素基因G1181C多态性可能是该地区汉族男性发生骨质疏松症危险性的遗传标志物。     

胰岛素抵抗和血糖代谢相关基因多态性与NAFLD的系统综述与Meta分析

目的 探讨胰岛素抵抗和血糖代谢相关基因多态性与非酒精性脂肪肝（NAFLD）易感性的关系。方法 通过文献检索收集胰岛素抵抗和血糖代谢相关基因多态性与NAFLD关系的病例对照研究,依据纳入、排除标准提取文献相关数据。采用R 1.3.1093软件进行meta分析。结果 共纳入50 项病例对照研究,涉及10个基因20个位点,其中,纳入系统综述研究27项,涉及9个基因16个位点。5个基因的7个位点与NAFLD存在关联,4个基因的7个位点不存在关联,其余两个位点存在争议。Meta分析的3个基因4个位点,GCKR rs780094 等位基因模型OR及95%CI:6.528（5.510～7.734）、GCKR rs1260326等位基因模型OR及95%CI:1.296（1.108～1.517）、ENPP1/PC1 rs1044498等位基因模型OR及95%CI:1.470（1.162～1.860）均显示增加NAFLD患病风险,而PPP1R3B rs4240624多态性与NAFLD易感性无关。结论 胰岛素抵抗和血糖代谢相关基因数目较多,但能进行meta分析的基因和位点较少,仅半数基因和位点与NAFLD存在关联。     

Effects of body mass index on bone mineral density in men

INTRODUCTION: A strong positive association between body mass index and bone mineral density is well defined in postmenopausal osteoporosis, but not in men. AIMS: The primary goal of the current research was to investigate this association in case of men. METHODS: According to WHO criteria (T-score below -1.0 at all measure site) seventy-two (mean age 55.7 +/- 0.99, range 38-78 yr normal density) healthy male with normal density were recruited. Exclusion criteria were the absence of any risk factors or signs of metabolic disease. Bone mineral measurements at the lumbar spine (L2-4) and femoral neck were performed by the dual-energy X-ray absorptiometry (DEXA, Lunar DPX-L, USA), bone mineral content of the non-dominant radius was measured with single photon absorptiometry (SPA, NK-364, Hungary). Participants were divided into three groups according to body mass index normal weight (18.5-24.9 kg/m2), moderate overweight (25-29.9 kg/m2) and obese subjects (> 30 kg/m2). RESULTS: Femur neck density was significantly lower in the normal weight than in the overweight counterparts (0.969 +/- 0.03 vs 1.062 +/- 0.02 p = 0.01). There was a strong positive association between BMI and femur neck BMD (r = 0.412 p < 0.001). Body mass was an independent predictor of femur neck bone mineral density (regression coefficients 0.382, p = 0.001). There was not correlation at the lumbar spine and the radius sites. CONCLUSION: Bone density at femur neck sites is lower in the normal weight men than in obese subjects, therefore the risk factors for proximal femur osteoporosis are higher in these cases. Prevention strategy is needed for men in the lowest quintile of body mass to prevent further decrease in BMD and reduce the risk of hip fracture.     

口服复方避孕药对青春期女性骨密度的影响

目的:观察复方口服避孕药(COCs)妈富隆(去氧孕烯/炔雌醇)对青春期女性骨矿物质密度(BMD)的影响。方法:接纳150例年龄16～18岁女性应用COCs避孕为观察组,用药24个月;接纳150例年龄16～18岁从未应用激素避孕药女性做对照组;应用双能X-线吸收法测量腰椎和股骨颈BMD。结果:观察组用药2年后腰椎和股骨颈BMD从基础值1.010±0.107g/cm3和0.818±0.089g/cm3降低到1.007±0.108g/cm3和0.813±0.090g/cm3,分别降低了0.29%和0.61%;而对照组则从基础值1.008±0.109g/cm3和0.816±0.087g/cm3增高至1.027±0.106g/cm3和0.824±0.089g/cm3,分别增高了1.88%和0.98%;用药2年后,观察组与对照组相比BMD无明显差异(P>0.05)。结论:青春期女性应用COCs避孕2年对BMD无明显影响。     

青春前期女童骨钙素基因多态性与骨量的相关关系

目的:了解我国青春前期女童骨钙素基因多态性分布并探讨其对骨量的影响。方法:选择152名9～11.5岁未月经初潮的健康女童,采用双能X线骨密度仪(DXEA)检测对象全身、L1-L4腰椎、左侧近端股骨的骨矿含量、骨密度以及体成分,采用PCR-RFLP技术检测骨钙素基因多态性。结果:152名女童OC基因HindⅢ位点多态性基因型的分布频率分别为:突变型纯合子(HH)5.26%,杂合子(Hh)36.84%,野生型纯合子(hh)为58.90%,各基因型TBBMC、全身及各部位的BMD、血骨钙素水平均存在显著差异(P<0.05),表现为HH相似文献   

膳食钙、磷以及奶制品对绝经后妇女骨密度的影响

目的探讨膳食中钙、磷以及奶制品的摄入量对骨密度及骨盐含量的影响,为研究骨质疏松的预防提供相关线索和依据。方法在广州市越秀区农林街社区发放传单招募调查对象,并采用自编的结构化标准问卷,对320名广州绝经后妇女的膳食习惯进行调查,并测量其全身、股骨全身、股骨颈、股骨干、大粗隆、Ward’s三角以及腰锥1～4的骨密度和骨量,采用多因素逐步回归分析探讨膳食钙、磷及奶制品对骨盐含量及骨密度的影响。结果 320名调查对象平均57.1岁,平均绝经年限7.3年,平均每天摄入钙、磷及奶制品分别为822 mg、949 mg和126 g,平均全身骨密度为1.054 g/cm2,磷与7个部位的骨密度及骨盐含量呈正相关关系（P〈0.05）。随着磷摄入量增加,全身及腰锥1～4骨密度增加,偏回归系数值分别为0.121和0.184 g.（cm2）-1.g-1.d-1。随着奶制品摄入量增加,股骨全身、股骨干骨密度也相应增加,骨密度偏回归系数值分别为0.686、0.841mg.（cm2）-1.g-1.d-1。钙与全身、股骨全身、股骨颈、大粗隆、股骨干和Ward’s三角的BMC具有正相关性,而在钙与BMD关系中,钙只与股骨全身、大粗隆和股骨干呈正相关性,且每日膳食中每增加100 g钙的摄入量,则股骨全身、大粗隆、股骨干的骨密度相应增加5.3、4.8和7.6 g/cm2。结论增加膳食中钙、磷以及奶制品的摄入量有利于绝经后妇女的骨盐含量及骨密度的提高。     

Cigarette smoking and bone mineral density in the elderly.

OBJECTIVE: To test the hypothesis that cigarette smoking is associated with reduced bone mineral density in elderly men and women. DESIGN: Cross sectional study. SUBJECTS: These comprised 224 men and 186 women aged 61-73 years, born and resident in East Hertfordshire. MEASUREMENTS: Lumbar spine and femoral neck bone mineral density (BMD) were determined by dual energy x ray absorptiometry. RESULTS: After adjusting for potential confounding variables, men who were current smokers were found to have a lumbar spine BMD that was 7.3% (95% CI 0.4, 14.2) lower than men who had never smoked. Similarly, women who were current smokers had a BMD value that was 7.7% (95% CI 0.3, 15.6) lower than in women who had never smoked. The difference at the femoral neck was smaller and not statistically significant. For both men and women, each decade of smoking was associated with a reduction of 0.015 g/cm2 in BMD at the lumbar spine (95% CI: men 0.002, 0.027; women 0.003, 0.028). At the femoral neck the reduction in BMD was 0.011 g/cm2 (95% CI 0.003, 0.020) for men and 0.004 g/cm2 (95% CI -0.003, 0.012) for women with each decade of smoking. CONCLUSIONS: The results show an adverse effect of smoking on BMD which was most noticeable at the lumbar spine, and seemed stronger in men than women. This effect could not be explained by differences in life style between smokers and nonsmokers.     

Bone mineral density at various anatomic bone sites in women receiving combined oral contraceptives and depot-medroxyprogesterone acetate for contraception

The association between users of combined oral contraceptives and depot-medroxyprogesterone acetate (DMPA) for contraception and bone mineral density (BMD) has been controversial because of variations among studies. Like other studies, this cross-sectional study compares BMD in users of combined oral contraceptives and DMPA with that in nonusers. Unlike previous studies, we defined long-term use as >2 years, and we measured more bone sites than previous studies including lumbar spines, femurs, and forearms. The study group consisted of 59 women aged 30 years to 34 years who had been using combined oral contraceptives for 57.36 ± 27.02 months with a minimum period of 24 months, 34 women of the same age who had been using DMPA as contraceptive for 55.76 ± 35.31 months, and 62 women of the same age who had not used any steroid hormonal contraceptives for more than 6 months. BMD was measured by dual energy photon absorptiometer at lumbar spine 2–4, neck of femur, Ward’s triangle of femur, greater trochanter of femur, ultradistal radius, and distal ulnar, respectively. Age, body mass index, and lifestyles of both groups were matched with nonusers. Mean BMD at lumbar spine (L2–4) in the DMPA users was significantly lower than in the controls (1.031 ± 0.090 vs. 1.096 ± 0.116, P = 0.007). There were no significant differences in BMD values at bone sites other than lumbar spine between DMPA users and the controls. There were no significant differences in BMD values at all bone sites between combined oral contraceptives users and the controls. We conclude that combined oral contraceptives are not associated with changes in values of BMD, while DMPA is associated with decreased BMD only at lumbar spine. We comment that steroid hormonal contraceptives are safe to use for long-term contraception regarding bone mass effects.     

中国成人吸烟与骨密度相关性的Meta分析

摘要:目的　探讨吸烟是否影响中国成人骨密度（BMD）。方法　检索研究中国成人吸烟与骨密度关系的文献,采用Meta分析方法进行分析。结果　11篇文献共5122名观察对象纳入分析:吸烟者腰椎、股骨颈及Ward's区BMD低于非吸烟者,差异有统计学意义（P＜0.0001）;亚组分析显示男性与女性吸烟者的股骨颈BMD低于非吸烟者,50岁及以上吸烟者股骨颈BMD低于非吸烟者,生态学与病例-对照亚组吸烟者的股骨颈BMD低于非吸烟者,病例-对照亚组吸烟者的腰椎BMD低于非吸烟者,以上差异均有统计学意义（P＜0.0001）。结论　吸烟与中国人群的腰椎、股骨颈和Ward's区的骨密度降低相关,特别是50岁及以上的成人,同时,吸烟女性的股骨颈骨密度比男性降低更显著。     

Relationship between inflammation biomarkers, antioxidant vitamins, and bone mineral density in patients with metabolic syndrome

Few studies have shown the correlation between metabolic syndrome and bone mineral density (BMD). The main pathogenic mechanisms of metabolic syndrome rely on chronic low-level inflammatory status and oxidative stress. There are few studies that examine the gender-specific effects of inflammation and antioxidants on BMD. In this study, we evaluated the relative contribution of these factors in patients with metabolic syndrome. We conducted a cross-sectional study of 67 men and 46 postmenopausal women with metabolic syndrome; metabolic syndrome was defined as having three or more metabolic syndrome risk factors. BMD, body fat mass, and lean body mass were evaluated. We also examined the levels of high sensitive C-reactive protein (hs-CRP), interleukin-6 (IL-6), adiponectin, vitamin E, and C in serum. Log-transformed hs-CRP levels were significantly higher in lumbar spine osteoporotic subjects than in normal subjects for women but not for men. There was no significant difference between the normal group and the osteoporotic group in other inflammatory markers. Stepwise regression analyses for BMD of the lumbar spine showed that lean body mass and vitamin E were significant determinants in men. Lean body mass and log-transformed hs-CRP were significant determinants in women Analysis for BMD of the femoral neck showed that lean body mass was a significant determinant for both men and women. There was no significant factor among the inflammatory markers or antioxidant vitamins affecting the femoral neck BMD for either gender. In conclusion, while hs-CRP is an independent predictor of the BMD of the lumbar spine in women, vitamin E showed profound effects on BMD in men but not women with metabolic syndrome.