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1.
目的探讨白细胞介素6(IL-6)基因启动子区-634C/G和-572C/G位点多态性与变应性鼻炎的关联性。方法应用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)检测105例PHC患者和130例健康对照者IL-6基因启动子区-634和-572位点多态性。结果 IL-6基因-634C/G多态性在变应性鼻炎组和对照组的分布差异不显著性(P0.05),而IL-6基因-572C/G多态性在两组人群中的分布差异显著(P0.05)。等位基因频率的相对风险分析发现,G等位基因携带者患冠心病的风险是C等位基因的1.849倍[相对比值比(OR)=1.849,95%可信区间(CI):1.187~2.879]。结论 IL-6-572基因多态性与变应性鼻炎的发病有相关性,G等位基因可能是变应性鼻炎的遗传易感基因。  相似文献   

2.
目的研究白细胞介素6(IL-6)-174位点和-634位点G/C多态性在辽西地区慢性心力衰竭(CHF)患者的多态性分布及相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,对80例慢性心力衰竭患者和健康对照组80例受试者,研究IL-6-174和IL-6-634位点基因多态性分布。结果 IL-6-634位点等位基因G、C频率对照组分别为13.13%、86.87%,CHF组分别为23.12%、76.88%,等位基因G在CHF组检出率明显高出对照组(0.05)。IL-6-174位点等位基因G、C频率对照组为98.13%、1.87%,CHF组为98.75%、1.25%,差异无统计学意义(0.05)。结论 IL-6-634 G多态性与CHF发病具有相关性,提示等位基因G可能是部分CHF患者易感性的遗传标志。  相似文献   

3.
目的 探讨中国南方汉族妇女白细胞介素-6(interleukin-6,IL-6)基因启动子区634C/G (rs1800796)位点单核苷酸多态性(single nucleotide polymorphism,SNP)与子宫内膜异位症(endometriosis,Ems)遗传易感性的相关性.方法 收集经手术证实的432例Ems患者和499名对照人群外周血,采用荧光定量PCR为基础的高分辨率熔解曲线分析(high resolution melting,HRM)技术检测IL-6 634C/G基因SNP.结果 IL-6 634C/G位点等位基因、携带等位基因G及其基因型的分布在Ems组和对照组间差异均有统计学意义(P=0.032、0.014和0.045),其中等位基因C使Ems发病风险提高1.057倍,而等位基因G使其降低0.835倍;携带等位基因G使Ems发病风险降低0.822倍,而不携带使其提高1.143倍;CG与CC基因型相比患Ems的危险度低0.704倍(95%CI:0.533~0.931).但IL-6 634C/G位点携带等位基因C的分布在两组间差异无统计学意义(P=0.729).结论 中国南方汉族妇女IL-6 634C/G位点SNP与Ems遗传易感性存在相关性.  相似文献   

4.
目的:探讨白介素-6(IL-6)基因启动子区-597G/A(rs1800797)、-572C/G(rs1800796)和-174G/C(rs1800795)三个单核苷酸多态性位点(SNP)和乳腺癌易感性的关联性。方法:按照诊断标准,入组女性乳腺癌患者176例及年龄、体重指数等相匹配的健康女性200例。提取外周静脉血DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测IL-6基因启动子区-597G/A、-572C/G和-174 G/C三个SNPs位点的基因型。利用SPSS11.5软件进行χ2检验,比较乳腺癌患者各位点基因型、等位基因频率与健康女性之间的差异,分析各位点多态性与乳腺癌发病风险的关联性。结果:IL-6基因-572C/G位点的基因型及等位基因频率分布在乳腺癌组与健康组之间存在显著性差异(P<0.05),乳腺癌组-572C/G位点的等位基因G频率显著高于健康组(χ2=15.438,P<0.0001,OR=2.017,95%CI=1.417~2.870)。结论:IL-6基因-572C/G位点多态性与乳腺癌易感性相关联,携带有-572G/C多态性位点G等位基因的女性罹患乳腺癌的风险要高于非携带女性。  相似文献   

5.
白细胞介素-6基因多态性与卵巢癌的相关性研究   总被引:1,自引:0,他引:1  
目的探讨白细胞介素-6(IL-6)基因启动子区域-174G/C基因多态性与中国北方汉族人卵巢癌的关系。方法采用序列特异性引物聚合酶链反应(PCR-SSP)技术,检测33例卵巢癌患者组和90例正常对照组IL-6基因多态性。结果IL-6基因-174G/C多态性位点基因型频率和等位基因频率在两组人群中的分布差异有统计学意义(x2=6.31,P<0.05),G等位基因携带者患卵巢癌的风险是C等位基因的3.74倍(OR=3.7405)。结论IL-6基因-174G/C多态性与卵巢癌的发病具有相关性,其中G等位基因可能是我国北方汉族人卵巢癌发病的遗传易感基因,携带G等位基因的个体可能通过促进IL-6的高度表达进而增加卵巢癌的发病风险。  相似文献   

6.
目的研究白细胞介素-6(IL-6)基因启动子-634C/G多态性在中国广西壮、汉两民族中的分布.方法应用聚合酶链反应-限制性片段长度多态性技术检测185名壮族人和198名汉族人的白细胞介素-6基因启动子-634C/G多态性,比较两组白细胞介素-6基因型和等位基因的分布频率.结果在壮族人中CC、CG和GG基因型分别为69.7%、28.7%和1.6%;在汉族人中CC、CG和GG基因型分别为68.2%、29.3%和2.5%.两组白细胞介素-6基因型的分布频率差异无显著性(P>(0.05).结论壮族与汉族白细胞介素-6基因-634C/G多态性分布频率差异无显著性.  相似文献   

7.
目的:探讨IL-18基因多态性位点(IL-18/-607C/A,IL-18/-137G/C)多态性及血清IL-18水平与哮喘发生的关系。方法:选取我院301例哮喘患者作为哮喘组,并选取288例健康成人作为健康组。提取研究对象全血DNA,采用等位基因特异性引物PCR检测两组IL-18基因多态性位点(IL-18/-607C/A,IL-18/-137G/C),并对其PCR反应产物进行测序验证;观察IL-18基因多态性位点(IL-18/-607C/A,IL-18/-137G/C)等位基因频率分布,同时通过酶联免疫吸附法检测IL-18在不同组别血清浓度,分析影响哮喘发生的危险因素。结果:与对照组相比IL-18基因(-607C/A)、3种基因型、等位基因等差异较大(χ2=10. 24,P0. 001;χ2=50. 26,P0. 001),差异具有显著统计学意义。哮喘组基因位点-137G/C的CC与GG基因型差异有显著统计学意义(χ2=4. 717,P0. 05),其等位基因频率差异无显著性(χ2=3. 711,P0. 05);哮喘组患者血清IL-18水平显著低于健康组(t=85. 34,P0. 001),其中基因多态性位点(-607C/A) CC基因型的哮喘患者血清IL-18的水平为(18. 02±3. 92) pg/ml,携带AA基因型患者IL-18的水平为(41. 68±8. 08) pg/ml,两者比较差异具有统计学意义(t=22. 26,P0. 001);基因多态性位点(-137G/C) 3种基因型哮喘患者血清IL-18的水平差异无统计学意义(F=0. 281,P0. 05)。结论:哮喘患者血清IL-18水平降低,提示哮喘的发生可能与血清IL-18水平低下有关。IL-18多态性位点(IL-18/-607C/A,IL-18/-137G/C)的基因分型中携带(-607C/A) AA基因型的人群患哮喘风险更大。  相似文献   

8.
目的探讨白细胞介素-6(IL-6)基因启动子区域-174G/C基因多态性与中国北方汉族人再生障碍性贫血(AA)的相关性。方法应用顺序特异性引物和聚合酶链反应(PCR-SSP)技术,检测了36例AA患者(再障组)和40例健康献血者(对照组)中IL-6基因位点的多态性变化。结果结果表明IL-6基因-174G/C多态性位点基因型频率和等位基因频率在两组人群中的分布差异有统计学意义(χ2=6.31,P〈0.05),G等位基因携带者患AA的风险是C等位基因的3.74倍(OR=3.7405)。两组之间比较差异有显著性意义,提示该等位基因频率增高与AA相关。结论IL-6基因-174G/C多态性与AA的发病具有相关性,其中G等位基因可能是我国北方汉族人AA发病的遗传易感基因,携带G等位基因的个体可能通过促进IL-6的高度表达进而增加AA的发病风险。  相似文献   

9.
目的 探讨白细胞介素-18(interleukin 18,IL-18)基因单核苷酸多态性与广西壮族系统性红斑狼疮(systematic lupus erythematosus,SLE)易感性之间的关系.方法 以115例SLE患者和160名健康对照者为研究对象,应用聚合酶链反应-限制性片段长度多态性和DNA测序的方法对IL-18基因-137G/C、-607C/A单核苷酸多态性进行基因分型.结果 IL-18基因-137G/C多态性在SLE组和正常人群中的分布差异无统计学意义(P>0.05),而IL-18基因-607C/A多态性在两组人群中的分布差异有统计学意义(P<0.05),等位基因频率的相对风险分析发现,-607 C等位基因携带者患系统性红斑狼疮的风险是-607A等位基因的1.619倍(OR=1.619,95%CI:1.150-2.281).联合基因型分析发现,IL-18的-137G/-607C等位基因频率在SLE组中显著高于对照组(P<0.05).-137G/-607C等位基因携带者显著增加了SLE的发病风险(OR=1.484,95%CI:1.056-2.087).结论 IL-18基因-607C/A多态性与SLE的发病具有相关性,其中-607 C等位基因可能是SLE的遗传易感基因.  相似文献   

10.
类风湿性关节炎患者血清IL-6水平及其基因多态性研究   总被引:1,自引:0,他引:1  
目的: 探讨血清IL-6水平及其基因多态性与类风湿性关节炎(RA)的相关性.方法: 采用酶联免疫吸附法(ELSIA)检测148例RA患者血清IL-6水平,并用序列特异性引物-聚合酶链反应(PCR-SSP)技术检测患者IL-6基因启动子两个位点的等位基因和基因型(IL-6-572C/G、 IL-6-174G/C).与健康对照组(120例)相比较.结果: RA患者血清IL-6水平明显高于对照组(P<0.01),IL-6-174G/C位点CC、 GC与GG基因型分布频率与健康对照组有明显差异(P<0.01),其C等位基因频率高于对照组(P<0.01),IL-6-572C/G位点GG、 GC与CC基因型两组之间比较有统计学意义(P<0.01),其G等位基因频率明显低于健康对照组(P<0.01).结论: RA与患者血清IL-6有关;IL-6-174G/C位点的C等位基因可能是RA发病的独立危险因素,IL-6-572C/G位点的G等位基因-可能有一定保护作用.  相似文献   

11.
Given that osteoprotegerin plays an important role in bone remodeling, the osteoprotegerin gene may be a candidate locus for susceptibility to osteoporosis. The relation of polymorphisms in the promoter of the osteoprotegerin gene to bone mineral density (BMD) was examined in a Japanese population-based prospective cohort study with randomly recruited subjects (1095 women and 1125 men for the 950T --> C polymorphism, 1094 women and 1127 men for the 245T --> G polymorphism). BMD at the radius was measured by peripheral quantitative computed tomography, and that for the total body, lumbar spine, right femoral neck, right trochanter, and right Ward's triangle was measured by dual-energy X-ray absorptiometry. Genotypes were determined with a fluorescence-based allele-specific DNA primer assay system. Among 950T --> C genotypes, BMD for the proximal radius was lower in premenopausal women with the CC genotype than in those with the TT or TC genotype; the difference in BMD between the two groups was 3.9% (P=0.0075). Among 245T --> G genotypes, BMD for the radius, total body, femoral neck, trochanter, and Ward's triangle was lower in postmenopausal women with the GG genotype than in those with the TT or TG genotype, the TT genotype, or the TG genotype; the differences in BMD between the GG genotype and the TT or TG genotype were 19.8% for the distal radius (P=0.0015), 13.1% for the proximal radius (P=0.0095), 11.2% for the total body (P=0.0013), 12.9% for the femoral neck (P=0.0067), 18.7% for the trochanter (P=0.0008), and 27.1% for Ward's triangle (P=0.0038). BMD was not associated with the 950T --> C or 245T --> G genotypes in men. The present results implicate the osteoprotegerin gene as a susceptibility locus for reduced BMD in Japanese women.  相似文献   

12.
Recently, It has been reported that the LDL receptor-related protein 5 (LRP5) regulates bone formation, and that mutations of the gene cause osteoporosis-pseudoglioma syndrome or high bone mass phenotypes. However, the mutations cannot explain a genetic trait for osteoporosis in the general population because of their rarity. From 219 Korean men aged 20-34 yr, we looked for six known polymorphisms causing amino acid changes in the LRP5 coding region, and investigated their association with bone mineral density (BMD) at the following anatomical sites: lumbar spine (L2-L4) and the left proximal femur (femoral neck, Ward's triangle, trochanter and shaft). We found that the Q89R polymorphism was significantly associated with BMD at the femoral neck and Ward's triangle (p=0.004 and <0.001, respectively). However, after adjusting for age, weight and height, a statistically significant association only occurred at the Ward's triangle (p=0.043), and a marginal association was observed at the femoral neck (p=0.098). No A400V, V667M, R1036Q and A1525V polymorphisms were found, and no statistically significant association was found between the A1330V polymorphism and BMD at any sites. Although we failed to demonstrate a clear association between the LRP5 polymorphism and peak bone mass in young men, the present study suggests that larger-scale studies on the Q89R polymorphism need to be performed.  相似文献   

13.
The aims of this study were to investigate the relationships between the production of interleukin-1 (IL-1), and IL-6 system by whole blood cells, and bone mineral density (BMD), and polymorphisms in IL-1 system and IL-6 gene in postmenopausal Korean women. The production of IL-1alpha, IL-1beta, IL-1 receptor antagonist (IL-1ra), IL-6, and soluble IL-6 receptor (sIL-6r) by lipopolysaccharide-stimulated whole blood cells was measured by ELISA in 110 subjects. Serum osteocalcin, C-telopeptide of type I collagen, and BMD at lumbar spine and proximal femur were measured. IL-1alphaC(-889)T polymorphism, IL-1beta C(-511)T polymorphism, 86-base pair variable number tandem repeat polymorphism in the IL-1ra gene, and IL-6 C(-634)G polymorphism were analyzed. The production of IL-1beta correlated positively with BMD at femoral neck, whereas the production of other ILs did not correlate with BMD at the skeletal sites examined. No significant differences in the production of ILs were observed among normal, osteopenic and osteoporotic postmenopausal women, and among the different IL system polymorphisms groups studied. No correlation between bone turnover markers and the production of ILs was noted. In conclusion IL-1beta may regulate bone metabolism at femoral neck, and the IL system polymorphism do not affect the production of ILs by whole blood cells.  相似文献   

14.
OBJECTIVE: To investigate the association between osteoprotegerin (OPG), receptor activator of nuclear factor-kappaB (RANK), and RANK ligand (RANKL) gene polymorphisms and circulating OPG, soluble RANKL (sRANKL) levels, and bone mineral density (BMD) in Korean postmenopausal women. DESIGN: The OPG gene A163G, G209A, T245G, and G1181C polymorphisms, the RANK gene C421T and C575T polymorphisms, and the RANKL rs12721445 and rs2277438 polymorphisms were analyzed in 385 Korean postmenopausal women. Levels of serum OPG, soluble RANKL, osteocalcin, C-telopeptide of type I collagen, parathyroid hormone, calcium, and phosphorus and BMD at the lumbar spine and femoral neck were measured. RESULTS: The A163G, G209A, and T245G polymorphisms in the OPG gene were in complete linkage. The RANK C421T and C575T polymorphisms and the RANKL rs12711445 polymorphism were not observed. An association with BMD was found only for the OPG G1181C polymorphism, and BMD at the lumbar spine in women with the CC genotype was significantly higher than in women with the GC or GG genotype, with a C allele dose effect. In itself, the RANKL rs2277438 polymorphism was not related to BMD, but by combining the RANKL genotypes with the GC genotypes of the OPG G1181C polymorphism, the association with BMD at the lumbar spine became significant. No significant differences in the levels of any biochemical marker among genotypes of these polymorphisms were found. CONCLUSIONS: The OPG gene G1181C polymorphism, alone and in combination with the RANKL rs2277438 polymorphism, was identified as a genetic factor associated with BMD of the lumbar spine in Korean women.  相似文献   

15.
OBJECTIVE: To investigate the relationship of osteocalcin and matrix Gla protein (MGP) gene polymorphisms to serum osteocalcin levels, and bone mineral density (BMD) in postmenopausal Korean women. DESIGN: The osteocalcin gene Hind III and MGP gene cytosine-adenine polymorphisms were analyzed in 267 postmenopausal Korean women. Serum osteocalcin, bone alkaline phosphatase, C-telopeptide of type I collagen, and BMD at the lumbar spine and femoral neck were measured. RESULTS: No significant differences in BMD of the lumbar spine and femoral neck were observed across MGP genotypes, whereas a significant lower BMD at the lumbar spine (but not at the femoral neck) was observed in women with the (h) allele (lower case 'h' signifies the presence of the Hind III site) in a dose-response manner. Serum osteocalcin levels among bone turnover markers studied were significantly higher in women without the 210-bp MGP (cytosine-adenine) allele, or with the osteocalcin hh genotype. CONCLUSIONS: The osteocalcin gene Hind III polymorphism is a genetic factor that is associated with BMD of the lumbar spine in Korean women, and Gla gene polymorphisms are associated with higher osteocalcin levels.  相似文献   

16.
目的:了解广州地区绝经后妇女维生素D受体基因多态性的分布,并进一步研究其与骨密度的关系。 方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFCP)等生物学技术检测203例绝经后广州地区妇女维生素D受体(VDR)基因型,同时用双能X线骨密度测量仪检测腰椎、股骨颈、瓦氏三角、大转子处骨密度(BMD)。 结果:203例受试对象中,VDR基因型分别为BB型17例(占8.3%)、Bb型60例(占29.6%),bb型126例(占62.1%), b等位基因频率为76.85%、B等位基因频率为23.05%,基因型分布符合Hardy-Weinberg定律。分析其基因型与骨密度的关系显示:只有bb与Bb、BB基因型在腰椎骨密度存在差异(P<0.05)、Bb与BB的腰椎BMD无差异(P>0.05),其余部位3种基因型骨密度无差异(P>0.05)。 结论: VDR基因型与BMD间存在着一定关联,但尚不能作为预测广州绝经后妇女发生骨质疏松危险性的遗传标志。  相似文献   

17.
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。  相似文献   

18.
OBJECTIVE: To examine the relationship between vitamin D receptor (VDR) and estrogen receptor (ER) gene polymorphism and bone mineral density (BMD). DESIGN: Polymorphisms at the VDR FokI and ER PvuII and XbaI gene sites, serum bone-specific alkaline phosphatase, urinary N-telopeptide of type I collagen, and BMD at the lumbar spine and proximal femur were analyzed in 229 postmenopausal Korean women. RESULTS: The distribution of ER PvuII and XbaI and VDR FokI restriction fragment length polymorphisms was as follows: pp 39.3%, Pp 46.3%, PP 14.4%, xx 34.1%, Xx 61.1%, XX 4.8%. ff 17.0%, Ff 43.7%, and FF 39.3%, respectively (upper-case letters signify the absence, and lower-case letters signify the presence of the restriction site). After adjusting for potential confounding factors such as age, body mass index, and menopause duration, ER PvuII was independently associated with BMD at the lumbar spine and XbaI polymorphism BMD at the femoral neck. The lumbar spine BMD in the pp genotype was 7.5% lower than in the PP genotype, and the femoral neck BMD was 4.8% lower in the Xx genotype than in the xx genotype. By itself, the VDR FokI polymorphism was not related to BMD, but by combining the FokI genotype (FF) with ER genotypes, such as ppxx and the PpXx, the difference in the BMD at the Ward's triangle became significant. There were no significant differences in the levels of biochemical markers between the genotypes of three polymorphisms. CONCLUSION: ER polymorphisms, singly and in relation to VDR FokI polymorphism, influence bone mass in Korean women.  相似文献   

19.
A number of polymorphisms in various genes have been identified and associated with bone mineral density (BMD) and with an increased risk of osteoporosis.

Objective

In this study, three single nucleotide polymorphisms (SNPs) within the TNFRSF11B gene were studied for association with an increased risk of osteoporosis in postmenopausal Maltese women (n = 126).

Methodology

Analysis was performed by PCR restriction fragment length polymorphism (RFLP) while BMD at the lumbar spine, femoral neck, Ward's triangle and trochanter was measured by DEXA.

Results

No significant association was observed between genotypes and BMD for all polymorphisms studied within this gene. Homozygotes CC (T950–C) were observed to have the highest BMD at all anatomical sites although statistical significance was not reached when comparing the three genotypes. A statistical significant difference was observed in the distribution of genotype frequencies for this polymorphism between normal individuals and those that were either osteopenic or osteoporotic at one or both anatomical sites, with the TT genotype associated more frequently with low BMD. The T950–C and G1181–C polymorphisms were in strong linkage disequilibrium with each other but not with the A163–G polymorphism further upstream in the OPG promoter. Statistical significance was reached when constructing haplotypes, where the A–T–G haplotype was found to be more frequent in individuals with low BMD.

Conclusions

These results indicate the possible role of TNFRSF11B gene variants in postmenopausal bone loss in women in Malta.  相似文献   


20.
An open, prospective, comparative study was done in healthy women, aged between 18 and 40 years, to study the effects of long-term etonogestrel treatment on bone mineral density (BMD). The control group used a non-hormone-medicated intrauterine device (IUD). The BMD was measured using a dual energy X-ray absorptiometry instrument. Measurements included the lumbar spine (L(2)-L(4)), the proximal femur (femoral neck, Ward's triangle, trochanter) and distal radius. The period of treatment was 2 years and 44 women in the Implanon group and 29 in the IUD group provided data. Groups were comparable at baseline with respect to age, weight, body mass index, BMD and 17beta-oestradiol status. Changes from baseline in BMD in the Implanon group were not essentially different from those in the IUD group. There was no relationship between 17beta-oestradiol concentrations and changes in BMD in this study population. The results of the present study indicate that Implanon((R)) can safely be used in young women who have not yet achieved their peak bone mass.  相似文献   

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