泸州地区VDR基因FokI多态性与原发性高血压的相关性研究

目的探讨泸州地区VDR基因FokI多态性与原发性高血压发生的相关性。方法选择泸州及周边地区常住汉族人群作为研究对象,其中高血压组415例,血压正常组415例,运用限制性片段长度多态性聚合酶链反应(PCR-RFLP)与DNA测序相结合的方式,检测VDR基因FokI位点多态性,分析高血压和血压正常组中基因型分布、等位基因频率及比值比(ORs),来预测高血压的风险,并进一步探究不同基因型的个体与临床参数的相关性和高血压发生可能的危险因素。结果 VDR基因FokI位点基因型在高血压组和血压正常组之间分布差异具有统计学意义(P=0.037),高血压组Ff+ff基因型分布明显高于血压正常组(69.5%vs.62.3%),以FF基因型为对照,Ff+ff基因型发生高血压的风险增高(OR=1.488,95%CI=1.080～2.052,P=0.015),两组间F/f等位基因的分布差异无统计学意义(P0.05),VDR基因Ff+ff型血清三酰甘油、肌酐水平与FF基因型相比,差异有统计学意义(P0.05)。经多因素logistic回归分析,结果显示FokI多态性、三酰甘油、肌酐是高血压发生独立的危险因素。结论泸州地区VDR基因FokI多态性可能与原发性高血压易感风险有关。     

维生素D受体基因多态性在1型糖尿病发病机制中的意义

目的：探讨北京地区中国汉族人群中维生素D受体(VDR)基因多态性对1型糖尿病(T1DM)易感性的影响。方法：选取北京居住的中国汉族人136名，其中T1DM患者54名，没有亲缘关系的正常对照组82名，采用PCR—RF12技术测定VDR基因上的ApuI，BsmI和TaqI 3个限制性酶切位点的多态性。结果:T1DM患者VDR基因BsmI位点等位基因B的频率显著高于正常对照(p=0．033)，而ApaI和TaqI位点的多态性分布在两组间未见明显差异。结论:居住北京的汉族T1DM患者中。VDR基因BsmI位点多态性可能与T1DM的易感性有关。     

VDR基因多态性与儿童慢性乙型肝炎的临床相关性分析

目的探讨维生素D受体(VDR)基因多态性与儿童慢性乙型肝炎(CHB)易感性、乙型肝炎病毒(HBV)基因型、肝脏病变严重程度及血清25羟维生素D[25(OH)D]水平的关系。方法选择该院189例CHB患儿为CHB组和56例健康儿童为对照组,CHB患儿根据肝脏病变严重程度分为轻度组(78例)和中度组(42例),按HBV基因型分为B型组(118例)和C型组(21例)。检测所有儿童的VDR基因BsmI(rs1544410)、ApaI(rs7975232)、TaqI(rs731236)、FokI(rs2228570)位点多态性,并分析其与儿童CHB易感性、HBV基因型、肝脏病变严重程度及血清25(OH)D水平的关系。结果 VDR基因ApaI位点的基因型在CHB组和对照组中的频率分布比较,差异有统计学意义(P0.05),CHB组AC基因型(43.9%)频率分布高于对照组(26.8%),而BsmI、TaqI和FokI 3个位点的基因型和等位基因频率分布在两组中的比较,差异均无统计学意义(P0.05);VDR基因BsmI、ApaI、TaqI、FokI 4个位点的基因型与等位基因频率分布在CHB患儿轻度组和中度组、HBV B型组和C型组中的比较,差异均无统计学意义(P0.05);血清25(OH)D水平在VDR基因4个位点不同基因型间比较,差异均无统计学意义(P0.05)。结论 VDR基因ApaI位点多态性可能与儿童CHB易感性相关,未发现VDR基因位点BsmI、ApaI、TaqI、FokI的多态性与CHB患儿肝脏病变严重程度、HBV基因型及血清25(OH)D水平的相关性。     

维生素D水平及其受体基因的多态性与女童中枢性性早熟关系的研究

目的研究中枢性性早熟女童的维生素D浓度变化及VDR基因多态性的差异,了解维生素D影响女童性早熟的部分机制。方法将40例中枢性性早熟女童、40例健康对照组女童作为研究对象。运用化学发光法检测其血清中Vit D的浓度,同时应用Snapshot检测技术进行VDR多态性位点ApaI(rs7975232)、BsmI(rs1544410)、TaqI(rs731236)、FokI(rs2228570)的检测。结果1.中枢性性早熟患儿25-OH Vit D水平低于健康对照儿童,两组的差异有统计学意义(P0.05)。2.(1) BsmI,FokI和TaqI三个位点分别对应的基因型CC、CT、AA、GA、GG,和AA、GA在两组中的分布差异均无统计学意义(分别χ~2=0.721,P=0.396;χ~2=3.414,P=0.181;χ~2=0.000,P=1.000)。(2)ApaI检测到的三种基因型CC,CA,AA在两组的分布差异有统计学意义(χ~2=9.833,P=0.007)。结论中枢性性早熟女童维生素D的水平低于健康女童,提示血清维生素D水平可能对女童中枢性性早熟发病有影响。ApaI(rs7975232)的不同基因型在两组中的分布差异有统计学意义,提示该基因序列的多态性可能在女童中枢性性早熟的发病机制中发挥作用。BsmI(rs1544410)、TaqI(rs731236)、FokI(rs2228570)的不同基因型以及等位基因在两组中的分布差异无统计学意义,提示其多态性可能与女童中枢性性早熟的发病无关。     

维生素D受体与慢性阻塞性肺病易感性的关联

目的探讨慢性阻塞性肺病(COPD)发病风险与维生素D受体(VDR)及其基因多态性的关联。方法选取并检测VDR基因FokI和Apa I位点基因型,分析其在COPD组(病例组)与健康对照组中的分布情况。结果 COPD患者VDR mRNA的表达量显著低于对照者(P 0. 01);多因素Logistic回归分析显示,Fok I点Ff基因型在病例组中的分布显著高于健康对照组(调整OR=1. 96,95%CI=1. 32～2. 92);未发现ApaI位点各基因型在对照组与病例组中存在分布差异;协方差分析结果显示,在对照组与病例组中,FokI位点不同基因型中VDR mRNA表达水平存在统计学差异(P 0. 01)。结论 VDR基因遗传变异与慢性阻塞性肺病的发病风险密切关联。     

高血压与维生素D受体基因遗传变异的相关性分析

目的探讨维生素D受体(VDR)基因遗传多态与高血压的相关性。方法采用病例对照研究,分析VDR基因FokI和Apa I位点基因型分布情况,比较不同基因型与高血压的相关性。结果 FokI位点的Ff可显著增加个体高血压的发病风险(调整OR=1. 63,95%CI=1. 17～2. 31),未发现ApaI位点多态性与高血压的发病风险存在显著相关性。与fa单倍型相比,Fa单倍型在高血压组的分布显著低于健康对照组(调整OR=0. 65,95%CI=0. 51～0. 84)。2组Fok I位点不同基因型血清25(OH)D3水平有显著差异(F=3. 47,P=0. 04)。结论 VDR基因遗传变异与高血压的发病风险具有相关性。     

维生素D受体基因多态性与多囊卵巢综合征的相关性研究

目的探讨维生素D受体(vitamin D receptor,VDR)基因FokI,BsmI,ApaI和TaqI的多态性与多囊卵巢综合征(polycystic ovary syndrome,PCOS)的相关性。方法选择符合诊断标准的PCOS患者120例为研究组,对照组为同期的除外子宫内膜异位症的良性卵巢囊肿患者120例。对其一般指标及生化指标进行分析,同时分析2组患者的VDR基因的分布频率。结果与对照组相比,PCOS组患者BMI明显增高;2组总胆固醇(TC)、甘油三脂(TG)、低密度脂蛋白(LDL-C)、高密度脂蛋白(HDL-C)及空腹胰岛素(FSI)浓度均有明显的差异,HOMA指数PCOS组患者也要明显高于对照组(均P<0.05)。PCOS组患者等位基因b,a及基因型bb,aa的频率均明显高于对照组,等位基因T及基因型TT的频率也明显高于对照组(P<0.05),但2组患者等位基因F及基因型FF差异则无统计学意义。结论 VDR基因BsmI,ApaI和TaqI位点的多态性与PCOS的易感性密切相关,FokI位点的多态性与PCOS的易感性可能无关。 更多还原     

维生素D受体基因多态性与系统性红斑狼疮研究进展

近年来人们对常见病的高危因素集中在基因研究方面,研究显示维生素D受体(VDR)存在多态性,但是VDR基因多态性对VDR蛋白质功能和信号通路的影响还不明确。目前,数个毗邻的限制性片段长度多态性如BsmI、ApaI、TaqI、FokI等与疾病的联系受到广泛关注,而VDR基因多态性的作用机理在自身免疫性疾病系统性红斑狼疮(systemic lupus erythematosus,SLE)、糖尿病及骨关节炎等方面知之甚少。本文就VDR多态性与SLE发病机制的研究及其进展进行综述。     

中国汉族人群维生素D受体基因3′区域单核苷酸多态性与前列腺癌基因危险性的关系

背景前列腺癌发病率有显著的种族差异,近来已有研究报告显示维生素D受体基因(vitamin D receptor gene,VDRG)多态性与前列腺癌的发病危险性有关,但大多集中在高发病的欧美人群.目的研究低发病的中国汉族人群VDRG单核苷酸多态性(single nucleotide polymorphism,SNP)与前列腺癌的关系,探讨前列腺癌发病种族差异的原因.设计非随机对照研究.地点和对象329受试者(103例前列腺癌患者、112例前列腺增生及114例对照者)外周血标本,采集自北京大学第一医院.所有受试者来自北方地区的汉族人群,均知情同意.干预收集中国北方地区汉族人群103例前列腺癌患者、112例前列腺增生及114例对照者外周血标本,应用基于PCR的限制性酶切片段长度多态(restriction fragment length polymorphism,RFLP)和变性高效液相色谱(denaturing high performance liquid chxomatograpy,DHPLC)方法,检测VDRG 3′区域三个单核苷酸多态位点TaqI,BsmI和ApaI,并对该位点SNP分布进行分析.主要观察指标VDRG 3′区域三个单核苷酸多态位点TaqI,BsmI和ApaI在病例与对照组中的分布,VDRG SNP分布与中国汉族人群前列腺癌发病危险及疾病进展的关系.结果VDRG 3′区域三个SNP位点基因型和等位基因在北方地区汉族前列腺癌患者及对照中的分布频率无显著差异(P＞0.05),但TaqI和BsmI位点基因型频率分布与高发患者群相比有显著不同.器官局限性前列腺癌组(T1～T2)Tt基因型以及携带等位基因A的纯合子(AA)或杂合子(Aa)的频率明显高于对照组(P＜0.05),此外,在低分级组(Gleason＜7)携带等位基因A的纯合子(AA)或杂合子(Aa)的频率明显高于对照组(P=0.031).结论结果显示VDRG 3′区域多态性在低发病的中国汉族人群与前列腺癌发病危险无关,但VDRG多态性在预测前列腺癌疾病进展有一定作用,TaqI和BsmI位点基因型频率分布与高发患者群有明显差异,可能是前列腺癌发病种族差异的原因之一.     

维生素D受体遗传变异与急性脑卒中的关联

目的探讨维生素D受体(VDR)基因遗传多态与急性缺血型脑卒中发病风险的相关性。方法采用Taq ManPCR方法检测VDR基因FokI和ApaI位点基因型分布情况,比较不同基因型与急性缺血型脑卒中发病的相关性。结果 FokI位点的Ff可以显著增加个体急性脑卒中的发病风险(调整OR=1.65,95%CI=1.18~2.32);与fa单倍型相比,Fa单倍型在急性脑卒中组的分布显著低于健康对照组(调整OR=0.66,95%CI=0.51~0.85)。结论 VDR基因遗传变异与急性缺血型脑卒中的发病风险存在关联。     

FokI polymorphism, vitamin D receptor, and interleukin-1 receptor haplotypes are associated with type 1 diabetes in the Dalmatian population

Vitamin D and interleukin (IL)-1 have been suggested to function in the pathogenesis of type 1 diabetes mellitus (T1DM). Therefore, we examined the influence of gene polymorphisms in vitamin D receptor (VDR) and interleukin-1 receptor type I (IL-1-R1) on susceptibility to T1DM in the Dalmatian population of South Croatia. We genotyped 134 children with T1DM and 132 controls; for FokI polymorphism studies, we extended the control group to an additional 102 patients. The VDR gene polymorphism FokI displayed unequal distribution (P = 0.0049) between T1DM and control groups, with the ff genotype occurring more frequently in T1DM individuals whereas the VDR gene polymorphism Tru9I did not differ in frequency between studied groups. All tested polymorphisms of the IL-1-R1 gene [PstI, HinfI, and AluI (promoter region) and PstI-e (exon 1B region)] displayed no differences between cases and controls. Haplotype analysis of the VDR gene (FokI, BsmI, ApaI, TaqI, Tru9I) and of the IL-1-R1 gene (PstI, HinfI, AluI, PstI-e) found haplotypes VDR FbATu (P = 0.0388) and IL-1-R1 phap' (P = 0.0419) to be more frequent in T1DM patients whereas the BatU haplotype occurred more often in controls (P = 0.0064). Our findings indicate that the VDR FokI polymorphism and several VDR and IL-1-R1 haplotypes are associated with susceptibility to T1DM in the Dalmatian population.     

Bone mineral density, body height, and vitamin D receptor gene polymorphism in middle-aged men

BACKGROUND: Polymorphisms of the vitamin D receptor (VDR) gene have been suggested to account for some of the genetic variation in bone mass. However, the relationship has been controversial. It has been suggested that environmental factors such as physical activity may be one of the many reasons for this controversy.AIM. We investigated the possible interactions of VDR gene polymorphisms and low to moderate intensity exercise on bone mineral density (BMD) in a four-year controlled, randomized intervention trial in 140 middle-aged Finnish men. METHOD: The TaqI, FokI, and ApaI restriction fragment length polymorphism (RFLP)-markers of the VDR gene were evaluated. BMDs of the lumbar spine (L2-L4), femoral neck, and total proximal femur were measured with dual-energy X-ray absorptiometry (DXA). In addition, the relations of the VDR gene polymorphism with bone turnover markers (serum tartrate-resistant acid phosphatase (TRAP) 5b activity and serum osteocalcin concentration) were evaluated. RESULTS: At the randomization, the subjects with the VDR TaqI Tt or tt genotype had a greater body height than the subjects with TT genotype (P=0.001). In addition, the association of VDR TaqI polymorphism with femoral BMD was found. The Tt or tt genotype associated with higher femoral neck values than the TT genotype (P=0.003) at randomization. After adjusting the femoral neck for body height, the association remained (P=0.021). We did not find any association between VDR gene polymorphism and bone turnover markers or any interactions of VDR gene polymorphisms and exercise on BMD. CONCLUSIONS: The TaqI polymorphism may be associated with body height and femoral neck BMD values. The present findings also suggest that the VDR polymorphisms do not modify the effect of regular aerobic exercise on BMD. However, more randomized controlled exercise trials are needed to investigate the role of exercise intensity on VDR gene polymorphisms, and the role of VDR gene polymorphisms on BMD.     

An interethnic comparison of the distribution of vitamin D receptor genotypes and haplotypes

BACKGROUND: The biological actions of vitamin D receptor (VDR) may be affected by genetic variations in the VDR gene. While there are interethnic differences in the frequency of VDR gene variants, there is little haplotype information, especially from admixed populations. We examined the distribution of genetic variants of 3 VDR polymorphisms (BsmI, ApaI and FokI) and haplotypes in black and white Brazilians. We have also compared our results with those from the HapMap project. METHODS: We studied 120 subjects self-reported as black, and 100 subjects self-reported as white (total N=220; men and women; age range: 19-56 years). Genomic DNA was extracted from venous blood and the genotypes for the VDR gene polymorphisms were determined by PCR followed by restriction fragment length digestion and gel electrophoresis. Haplotypes were inferred with the program PHASE ver. 2.1. RESULTS: While the distribution of VDR genotypes or alleles for the 3 VDR gene polymorphisms in Brazilians showed no interethnic differences (all P<0.05), significant differences were found for the ApaI and FokI polymorphisms in the HapMap populations (both P<0.05). While no interethnic differences in the distribution of haplotypes were found in Brazilians (P>0.05), significant differences were found in the HapMap populations (P<0.05). CONCLUSIONS: VDR genotype and haplotype differences between the Brazilian population and the HapMap population gives support to the idea that significant differences in haplotype structures may exist between different populations, especially admixed populations.     

Bone mineral density,body height,and vitamin D receptor gene polymorphism in middle‐aged men

BACKGROUND. Polymorphisms of the vitamin D receptor (VDR) gene have been suggested to account for some of the genetic variation in bone mass. However, the relationship has been controversial. It has been suggested that environmental factors such as physical activity may be one of the many reasons for this controversy.

AIM. We investigated the possible interactions of VDR gene polymorphisms and low to moderate intensity exercise on bone mineral density (BMD) in a four‐year controlled, randomized intervention trial in 140 middle‐aged Finnish men.

METHOD. The TaqI, FokI, and ApaI restriction fragment length polymorphism (RFLP)‐markers of the VDR gene were evaluated. BMDs of the lumbar spine (L2–L4), femoral neck, and total proximal femur were measured with dual‐energy X‐ray absorptiometry (DXA). In addition, the relations of the VDR gene polymorphism with bone turnover markers (serum tartrate‐resistant acid phosphatase (TRAP) 5b activity and serum osteocalcin concentration) were evaluated.

RESULTS. At the randomization, the subjects with the VDR TaqI Tt or tt genotype had a greater body height than the subjects with TT genotype (P = 0.001). In addition, the association of VDR TaqI polymorphism with femoral BMD was found. The Tt or tt genotype associated with higher femoral neck values than the TT genotype (P = 0.003) at randomization. After adjusting the femoral neck for body height, the association remained (P = 0.021). We did not find any association between VDR gene polymorphism and bone turnover markers or any interactions of VDR gene polymorphisms and exercise on BMD.

CONCLUSIONS. The TaqI polymorphism may be associated with body height and femoral neck BMD values. The present findings also suggest that the VDR polymorphisms do not modify the effect of regular aerobic exercise on BMD. However, more randomized controlled exercise trials are needed to investigate the role of exercise intensity on VDR gene polymorphisms, and the role of VDR gene polymorphisms on BMD.     

ApaI polymorphisms of the vitamin D receptor predict bone density of the lumbar spine and not racial difference in bone density in young men

A number of previous investigations showed significant associations between polymorphisms of the vitamin D receptor (VDR) gene and bone mineral density (BMD). BMD is influenced by hormones and the rate of skeletal remodeling. A study was performed to investigate the possible relationship between Apa I, Bsm I, Taq I, and Fok I polymorphisms of the VDR gene and serum 1,25-dihydroxyvitamin D (1,25[OH]2D), osteocalcin, and propeptide of type I collagen (PICP)-markers of bone turnover, total body calcium, and BMD of the total body, radius, lumbar spine, trochanter, and femoral neck-in 39 young adult black men of 20 to 40 years of age and 44 age-, height-, and weight-matched white men. The distribution of each of the four alleles of the VDR genotypes was similar in the two racial groups. The Apa I VDR genotype was associated with serum PICP (P =.0494) but not with serum 1,25(OH)2D or serum osteocalcin. A significant association between the Apa I VDR genotype and BMD of the lumbar spine (P =.0291) was also observed. However, the Bsm I, Taq I, and Fok I genotypes were not significantly associated with BMD or serum osteocalcin, PICP, or 1,25(OH)2D. Multivariate stepwise analysis indicated that (1) the Apa I VDR genotype was associated with BMD of the lumbar spine in the two groups together; with total body calcium and BMD of the total body, radius, trochanter, and femoral neck in the black men; and with BMD of the radius in the white men; analysis also indicated that (2) race was significantly associated with total body calcium and BMD of the total body, lumbar spine, and femoral neck. In summary, the Apa I VDR genotype is associated with serum PICP and BMD at a number of sites but does not contribute to or account for racial differences in BMD in young adult men.     

Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures

BACKGROUND: Vitamin D is essential for normal bone metabolism. Polymorphisms in exon 2, intron 8 and exon 9 of the vitamin D receptor (VDR) gene have previously been found to be associated with bone mass and bone turnover. MATERIALS AND METHODS: We examined the effect of these polymorphisms, separately and in combination, on bone mineral density (BMD), bone turnover, and the prevalence of osteoporotic fractures in 192 osteoporotic patients and 207 normal controls. The four polymorphisms were determined by RFLP using Fok I (T2-C), Bsm I (intron 8), Apa I (intron 8) and Taq I (T1055-C) after PCR. RESULTS: We did not find any association between the Fok I polymorphism and bone mass, bone turnover or prevalence of osteoporotic fractures. We found that BB + Bb-genotypes were more frequent in patients with osteoporotic fractures (chi2 = 3.50, P = 0. 06). Furthermore, BMD of the intertrochanteric region (P < 0.0001, ANOVA) as well as the total hip (P < 0.01, ANOVA) were higher in individuals with the bb-genotype. The Apa I and the Taq I polymorphisms were not distributed differently among osteoporotic patients and normal controls. Apa I was not associated with differences in BMD. BMD of the intertrochanteric region was higher in individuals with the TT-genotype compared with individuals with the Tt- or tt-genotypes (P < 0.01, ANOVA), while no differences could be demonstrated in BMD of the lumbar spine, femoral neck, trochanter or Wards triangle. Combining the genotypes generally reflected the differences caused by the Bsm I polymorphism. CONCLUSION: We have found that the B-allele of the Bsm I polymorphism in the 3' untranslated region of the VDR was associated with low BMD at the hip, and tended to be associated with osteoporotic fractures. The translation initiation polymorphism in the VDR does not affect BMD and is not associated with osteoporotic fractures in men or women.     

保山地区汉族儿童维生素D受体基因多态性调查

目的针对云南省保山市汉族儿童开展分子流行病学调查,研究维生素D受体(VDR)基因多态性分布,获得本地区汉族儿童钙吸收情况,提高儿童科学补钙的依从性并促进儿童生长发育。方法选取2016年至2019年在医院进行体检的汉族儿童作为研究对象,共计120人。采集口腔黏膜上皮脱落细胞,抽提基因组DNA,使用荧光定量PCR方法检测VDR Bsm I和Fok I基因位点多态性,分析基因型和等位基因频率分布,并与已报道的其他地区的数据进行比较。结果1)入组对象的基因多态性分布符合遗传平衡。2)VDR Bsm I位点GG、GA的基因型频率分别为93.3%、6.7%,无AA基因型,G、A等位基因频率分别为96.7%、3.3%。VDR Fok I位点TT、TC、CC的基因型频率分别为24.2%、55.0%、20.8%,T、C等位基因频率分别为51.7%、48.3%。3)VDR Bsm I和Fok I两位点连锁有6种组合,频率最高的是GG/TC(52.5%),没有AA/TT、AA/TC和AA/CC组合。两位点间存在连锁不平衡(D′=0.469,r2=0.007)。结论获取保山地区汉族儿童VDR Bsm I和Fok I位点基因多态性的群体遗传学特征,与其他地区儿童有所区别,具有地域特异性。     

Association of polymorphisms in the collagen region of human SP-A1 and SP-A2 genes with pulmonary tuberculosis in Indian population.

Surfactant protein A (SP-A) binds to and modulates phagocytosis of Mycobacterium tuberculosis by macrophages. We investigated the relationship between polymorphisms in the collagen regions of SP-A1 and SP-A2 genes and pulmonary tuberculosis. In the present study, seven single nucleotide polymorphisms (SNPs) (4 exonic and 3 intronic) have been identified in the collagen regions of SP-A1 and SP-A2 genes in Indian population. Two intronic polymorphisms, SP-A1C1416T ((p = 0.0000, odds ratio (OR) = 20.767,95% CI: 8.315-OR<51.870) and SP-A2C1382G (p = 0.0054; OR = 3.675, 95% CI: 1.400< OR<9.644), showed significant association with pulmonary tuberculosis (number of patients = 10, number of controls = 7). A redundant SNPA1660G of SP-A2gene showed significant association with pulmonary tuberculosis (number of patients = 17, number of controls = 19, p = 0.0000, OR = 8.94,95% CI: 3.311相似文献   

1860株老年复治肺结核患者结核分枝杆菌耐药性分析

目的：分析老年复治肺结核患者中分离的结核分枝杆菌（Mycobacterium tuberculosis）的耐药性。方法收集上海市肺科医院2005年1月至2013年12月1860例老年复治肺结核患者（复治组）分离菌株,对其进行耐药性分析。另选300例同期初治肺结核患者作为对照（初治组）。比较两组患者病原菌的耐药情况。结果复治组男性与女性患者中分离的病原菌对链霉素、利福平、乙胺丁醇、阿米卡星、卷曲霉素和氧氟沙星的耐药率比较,差异有统计学意义（均 P＜0．05）。男性耐多药比率为24．0％（357／1489）,广泛耐药比率为9．8％（146／1489）;女性分别为34．2％（127／371）,19．7％（73／371）,差异有统计学意义（ P＜0．05）。复治组耐多药比率为26．0％（484／1860）,广泛耐药比率为11．8％（219／1860）;初治组分别为11．3％（34／300）和7．0％（21／300）,差异有统计学意义（ P＜0．05）。复治组耐单药比率为20．0％（372／1860）,初治组为41．0％（123／300）,差异有统计学意义（P＜0．05）。结论老年复治肺结核患者耐药率高,且女性患者耐药发生率高于男性;提示有必要加强老年复治肺结核耐药性监测。     

Bone disease with vitamin D receptor abnormality

In humans, the vitamin D receptor (VDR) gene has been localized to the chromosomal locus 12q13-14. The gene is composed of a minimum of nine exons. Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) known as vitamin D dependent rickets type II is a rare autosomal recessive disease that arises as a result of mutations in the gene encoding the VDR. Genetic factors play a key role in determining bone mass, which is an important predictor of osteoporosis. Recently, polymorphism at the VDR locus has been implicated as a genetic marker for bone mineral density. Vitamin D receptor gene start codon polymorphisms, and 3'-end region polymorphisms may modulate bone density.