TNFRSFl3B基因中SNP rsl1078355与中国东北地区颅内动脉瘤的相关研究

目的 探讨肿瘤坏死因子受体13B基因(TNFRSFl3B)中SNPTS11078355 G>A在中国东北地区散发颅内动脉瘤发生中所起的作用.方法 应用PCR-RFLP方法从100例颅内动脉瘤患者和116例健康对照者的外周血中提取TNFRSFl3B基因单核苷酸多态性rsll078355 G>A的基因型,所有数据应用SPSSl3.0统计学软件进行统计.结果 在100例颅内动脉瘤患者中,63%在40-59岁之间;TNFRSFl3B基因SNP rsl1078355 G>A基因型与颅内动脉瘤的发病危险密切相关(P=0.034,OR=1.870);在病例组与对照组之间,性别差异具有明显不同(P=0.036,OR=1.794),女性多于男性;空腹血糖的增高和高血压是颅内动脉瘤发生的危险因素(P相似文献   

CSPG2和HSPG2基因单核苷酸多态性与中国汉族人颅内动脉瘤的相关性研究

目的 分析CSPG2和HSPG2基因单核苷酸多态性(single nucleotide polymorphism,SNP)与中国汉族散发颅内动脉瘤的相关性.方法 采用病例-对照关联研究方法,收集颅内动脉瘤患者537例以及年龄和性别匹配的正常对照1071名的外周血样各5 mL并提取基因DNA.通过聚合酶链式反应扩增目的DNA,用单碱基延伸(SNaPshot)法进行SNP分型.选取文献报道的CSPG2和HSPG2基因的两个标签SNPs位点rs251124和rs3767137,分析其与汉族散发颅内动脉瘤发病的关联性.结果 CSPG2和HSPG2基因的两个标签SNPs位点rs251124和rs3767137的基因型均满足Hardy-Weinberg平衡.CSPG2rs251124的等位基因频率在患者组与对照组之间差异无统计学意义(P=0.22);HSPG2 rs3767137的等位基因频率在两组之间亦差异无统计学意义(P=0.26),但其相应的OR值大于1(OR=1.12;95％CI=0.92～1.37).患者组与对照组rs251124、rs3767137的基因型频率均差异无统计学意义(P=0.46,0.53).结论 未发现CSPG2和HSPG2基因rs251124、rs3767137 SNPs与中国人颅内动脉瘤发病的相关性.     

蛋氨酸合成酶基因多态性与颅内动脉瘤的关系

目的 探讨同型半胱氨酸和蛋氨酸合成酶(MS)A2756G基因多态性与颅内动脉瘤的关系.方法 运用多聚酶链反应技术和化学发光法检测76例颅内动脉瘤及77例正常人MS A2756G基因多态性.结果 颅内动脉瘤组的MS D919G DG基因型频率较正常对照高(P ＜ 0.01),患颅内动脉瘤的风险是对照组的6.35倍.两组等...     

广东汉族人颅内动脉瘤与肿瘤坏死因子TNFα-1031基因多态性的相关性研究

目的 探讨广东汉族人群肿瘤坏死因子TNFα-1031基因多态性与颅内动脉瘤的相关性.方法 采用聚合酶链-限制性片段长度多态性方法检测118例颅内动脉瘤患者与100名健康对照者TNFα-1031基因多态性,并对两组人群中该基因的基因型频率进行比较.结果 在患者中T/T基因型有86例(72.88%),T/C基因型有29例(...     

与脑动脉瘤有关的基因

据美国BIOCOMPARE科技新闻网（2007／8／17）报道，辛辛那提大学（University of Cincinnati, UC）的研究人员发现，若将小鼠的 NOS-3 （endothelial nitric oxide synthase）基因移除，将使颅内动脉瘤发生的几率提高33％，显示NOS-3基因与动脉瘤的形成有绝对的关系。     

ADAM33 基因rs2280090, rs487377, rs2787094 多态性与哮喘的相关性研究

目的:探讨ADAM33 基因多态性与青岛地区汉族成人哮喘的相关性。方法:采用SNaPshot 方法检测研究对象ADAM33 基因rs2280090、rs487377、rs2787094 共3 个位点的基因多态性。结果:rs2280090、rs487377 和rs2787094 基因型频率在哮喘组与对照组间差异无统计学意义(P>0.05)。结论:ADAM33 基因rs2280090、rs487377 和rs2787094 多态性与青岛地区汉族成人哮喘无相关关系。     

CDKAL1基因rs4712523多态性与内蒙古地区汉族人群2型糖尿病相关

目的 研究内蒙古地区汉族人群CDKAL1基因rs4712523单核苷酸多态性(SNP)的等位基因和基因型频率分布与2型糖尿病(T2DM)的相关性.方法 采用等位基因特异性聚合酶链式反应(AS-PCR),对382例内蒙古地区汉族人(其中T2DM组192例,对照组190例)rs4712523进行基因分型.结果 T2DM组中rs4712523的G等位基因频率和GG基因型频率分别为47.4％和6.3％,均显著高于对照组的35.3％和3.2％(P＜0.05).G等位基因携带者患T2DM的风险是A等位基因的1.654倍(OR=1.654,95％ CI=1.237-2.212).结论 CDKAL1基因rs4712523多态性位点的G等位基因可能是内蒙古地区汉族人T2 DM的易感基因之一.     

同型半胱氨酸和胱硫醚-β合成酶基因多态性与颅内动脉瘤的关系

目的 探讨同型半胱氨酸和胱硫醚-β合成酶基因(CBS)844ins 68基因多态性与颅内动脉瘤的关系.方法 运用多聚酶链反应技术和荧光偏振法(FPIA)检测76例颅内动脉瘤及143例正常人CBS 844ins 68基因多态性和血浆总Hcy水平.结果 ①AD组CBS844ins 68 D/D、D/I、I/I基因型频率(%...     

华东地区汉族人群IL12B基因多态性与Graves病相关性研究

目的 研究华东地区汉族人群IL12B基因3’UTR多态性与Graves病的相关性。方法 用直接测序法对华东地区93例Graves病患者及94例正常对照者的IL12B基因的3’UTR 的多态位点进行检测，分析华东地区汉族人群IL12B基因与Graves病的相关性。结果 在IL12B的3’UTR区检测到2个SNPs：1188A/C和1358-/G，基因型分布在GD患者和正常对照中无统计学差异；单倍型分析显示A-频率在GD患者中显著低于正常对照：P=0.046。结论 IL12B可能与GD的易感性有关。     

哮喘患者IL-13基因多态性与IL-13、TIgE水平相关性研究

目的:探讨白细胞介素13(IL-13)基因内含子区+1923C/T多态性与哮喘患者外周血单个核细胞(PBMC)产IL-13、血浆总IgE(TIgE)水平及其相关性。方法:用聚合酶链反应和限制性片段长度多态性(PCR/RFLP)方法检测哮喘组与对照组+1923C/T位点多态性。IL-13、血浆总IgE采用ELISA法。结果:+1923位点等位基因C、T频率在两组间分布的差异具有显著性(X2=9.30,P<0.01);等位基因T与哮喘关联,OR(T/C)=1.87,95%CI=1.25-2.80,P<0.01。两组基因型(TT、CT、CC)频率的分布差异亦有显著意义(X2=9.92,P<0.01)。其优势比:OR(TT/CC)=3.76,95%CI=1.52-9.29,P<0.01;OR(CT/CC)=2.10,95%CI=1.11-3.95,P<0.05;OR(TT/CT)=1.79,95%CI=0.77-4.19,P>0.05。哮喘组中TT、TC基因型人群PBMC产IL-13及TIgE水平与同组及对照组CC基因相比较差异均有显著性(P<0.01)。结论:IL-13基因+1923位点多态性是影响哮喘的重要候选基因,T等位基因与哮喘关联。     

The SCARB1 rs5888 SNP and Serum Lipid Levels in the Guangxi Mulao and Han Populations

Backgroud: The associations of scavenger receptor class B type 1 (SCARB1) rs5888 single nucleotide polymorphism (SNP) and serum lipid levels are inconsistant among diverse ethnic populations. The present study was undertaken to detect the association of rs5888 SNP and serum lipid levels in the Guangxi Mulao and Han populations.Methods: Genotypes of the SCARB1 rs5888 SNP in 801 subjects of Mulao and 807 subjects of Han Chinese were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.Results: Serum apolipoprotein (Apo) B levels and the T allelic frequency were higher in Mulao than in Han. Serum high-density lipoprotein cholesterol (HDL-C) levels in Mulao were different among the genotypes, the subjects with TT genotype had lower HDL-C levels than the subjects with CC or CT genotype in female (P < 0.05). For the Han population, serum triglyceride (TG), HDL-C, ApoAI, ApoB levels and the ratio of ApoAI to ApoB in males were different among the genotypes, the T allele carriers had lower serum HDL-C, ApoAI levels and ApoAI/ApoB ratio and higher serum ApoB levels than the T allele noncarriers (P < 0.05 for all), the subjects with TT genotype had higher serum TG levels than the subjects with CC or CT genotype. Serum HDL-C levels in Mulao females and serum HDL-C, ApoAI, ApoB levels and the ApoAI/ApoB ratio in Han males were correlated with genotypes by the multiple linear regression analysis. Serum lipid parameters were also influenced by genotype-environmental interactions in Han but not in Mulao populations.Conclusions: These results suggest that the rs5888 SNP is associated with serum HDL-C levels in Mulao females, and TG, HDL-C, ApoAI, ApoB levels and the ApoAI/ApoB ratio in Han males. The differences in serum ApoB levels between the two ethnic groups might partially attribute to different SCARB1 genotype-environmental interactions.     

PCSK9基因rs2479409位点多态性与认知障碍相关

目的探讨前蛋白转化酶枯草溶菌素9(PCSK9)基因rs2479409位点多态性与认知功能障碍的相关性。方法在中国江苏省如皋县开展的以人群为基础的病例对照研究中,共纳入了1 707例年龄70~84岁的研究对象,使用改良长谷川痴呆量表(HDS-R)评价该人群认知功能,并检测了该人群中PCSK9基因rs2479409位点单核苷酸多态性情况。结果该人群PCSK9基因rs2479409多态性主要以GG和AG基因型存在。认知障碍组和对照组在rs2479409位点的等位基因频率、基因型频率分布有差异(P0.05)。A等位基因为认知障碍保护性因素,GG基因型相对于AA基因型1.66倍增加认知障碍发生风险(OR=1.66,95%CI 1.16~2.36,P0.01),调整相关混杂因素后仍有统计学差异(P0.05)。结论 PCSK9基因rs2479409位点多态性与认知障碍相关。     

Mouse Models of Intracranial Aneurysm

Subarachnoid hemorrhage secondary to rupture of an intracranial aneurysm is a highly lethal medical condition. Current management strategies for unruptured intracranial aneurysms involve radiological surveillance and neurosurgical or endovascular interventions. There is no pharmacological treatment available to decrease the risk of aneurysm rupture and subsequent subarachnoid hemorrhage. There is growing interest in the pathogenesis of intracranial aneurysm focused on the development of drug therapies to decrease the incidence of aneurysm rupture. The study of rodent models of intracranial aneurysms has the potential to improve our understanding of intracranial aneurysm development and progression. This review summarizes current mouse models of intact and ruptured intracranial aneurysms and discusses the relevance of these models to human intracranial aneurysms. The article also reviews the importance of these models in investigating the molecular mechanisms involved in the disease. Finally, potential pharmaceutical targets for intracranial aneurysm suggested by previous studies are discussed. Examples of potential drug targets include matrix metalloproteinases, stromal cell‐derived factor‐1, tumor necrosis factor‐α, the renin‐angiotensin system and the β‐estrogen receptor. An agreed clear, precise and reproducible definition of what constitutes an aneurysm in the models would assist in their use to better understand the pathology of intracranial aneurysm and applying findings to patients.     

HLA-DQ遗传多态性与乙肝病毒感染结局相关

目的 探讨中国汉族人群人类白细胞抗原(HLA)-DQ基因单核苷酸多态性(rs9275572和rs9275319)与乙肝病毒感染结局的关系.方法 用TaqMan探针对纳入的921例样本进行HLA-DQrs9275572和rs9275319位点多态性的检测,921例血样本包括310例HBV相关慢性肝病者(CLD)、295例乙肝感染后自发清除者(SC)和316例健康对照者(HC).结果 1)Rs9275572 AG基因型有利于乙肝感染后病毒自发清除(OR 1.82,95％ CI 1.26～2.62;显性基因模型:OR 1.84,95％ CI 1.30～2.61).2)SNPrs9275319位点与乙肝易感性及感染后病毒的自发清除关系密切,携带rs9275319 C等位基因是一个保护因素(CLD vs HC:等位基因模型OR 0.49,95％ CI0.33 ～0.73,显性模型OR0.47,95％ CI0.31～0.72;CLD vs SC:等位基因模型OR 1.61,95％ CI 1.06～2.43,显性模型OR 1.57,95％口1.01 ～2.48).3)单体型T-G/T-A与乙肝易感性及感染后病毒自发清除相关.结论 HLA-DQ基因多态性与乙肝易感性及感染后病毒的自发清除密切相关.     

Association of the ARL15 rs6450176 SNP and serum lipid levels in the Jing and Han populations

The association of ADP-ribosylation factor-like 15 (ARL15) rs6450176 single nucleotide polymorphism (SNP) and serum lipid profiles has never been studied in the Chinese population. The present study was undertaken to detect the association of ARL15 rs6450176 SNP and several environmental factors with serum lipid levels in the Jing and Han populations. Genotypes of the SNP were determined in 726 unrelated subjects of Jing nationality and 726 participants of Han nationality. The genotypic and allelic frequencies of the SNP in Jing but not in Han were different between males and females (P < 0.001 and P < 0.05; respectively). The G allele carriers in Han had lower serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels, and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05-0.01). The G allele carriers in Jing had lower serum TC, high-density lipoprotein cholesterol (HDL-C), ApoA1, ApoB levels and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05 for all). Subgroup analyses showed that the G allele carriers had lower TC and LDL-C levels in Han males; lower LDL-C and ApoB levels in Han females; lower ApoB levels and ApoA1/ApoB ratio in Jing males; and lower LDL-C levels in Jing females than the G allele non-carriers (P < 0.05-0.01). Multiple linear regression analysis showed that serum TC, LDL-C, ApoB levels and the ApoA1/ApoB ratio in Han; and TC, HDL-C and ApoA1 levels in Jing were correlated with the genotypes of the ARL15 rs6450176 SNP (P < 0.05-0.001). Serum lipid parameters were also associated with several environmental factors in both ethnic groups. These findings indicated that there may be a racial/ethnic- and/or sex-specific association of the ARL15 rs6450176 SNP and serum lipid levels.     

MMP-12、-13基因多态性与上皮性卵巢癌发病风险的关联研究

目的 探讨MMP-12、-13基因启动子区功能多态性与上皮性卵巢癌发病风险的关系.方法 应用聚合酶链反应-限制性片段长度多态性方法 检测300例上皮性卵巢癌患者和300名对照妇女的MMP-12-82A/G及MMP-13-77A/G单核甘酸多态性(single nucleotide polymorphism,SNP)的基因型和等位基因频率分布情况.结果 上皮性卵巢癌组中MMP-12-82A/G SNP的A、G等位基因频率和AA、AG基因型频率与对照组相比差异有统计学意义(P=0.004;P=0.003);与AA基因型比较,AG基因型可显著增加上皮性卵巢癌的发病风险(OR=2.81,95%CI:1.38～5.74).MMP-13-77 A/G SNP的等位基因及基因型频率在上皮性卵巢癌组和对照组中分布差异无统计学意义(P=0.06和P=0.15),但根据病理类型分层分析发现,与GG基因型相比,AA基因型可显著增加浆液性及粘液性上皮性卵巢癌的发病风险(OR=1.93,95%CI:1.05～3.53;OR=5.16,95%CI:1.62～16.44).结论 MMP-12-82 A/G和MMP-13-77A/G多态性位点可能为上皮性卵巢癌或特定病理类型上皮性卵巢癌发病的独立风险因素.     

Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency

Mutations in the TNFRSF13B ( TACI ) gene have been associated with common variable immunodeficiency, and a role in immunoglobulin A deficiency (IgAD) has also been suggested. We aimed at studying the role of several polymorphisms along this gene in IgAD susceptibility. Three TNFRSF13B mutations (C104R, A181E and R202H) and eight additional single nucleotide polymorphisms in the gene were genotyped in 338 Spanish IgAD patients and 553 ethnically matched healthy controls and tested for association. Data from parents of 114 IgAD patients were also collected and used for additional analysis. No statistically significant differences were observed after comparing patients and controls for any single nucleotide polymorphism analysed. Therefore, our work seems to discard a role of TNFRSF13B mutations in IgAD, concordantly with the most recent published studies.     

Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population

The heat shock 70?kDa protein 1B (HSPA1B), which has been well-studied among the famous heat shock proteins HSPA1A/B/L, is related to autoimmune diseases, including Alopecia Areata (AA). In this study, the association of a 5’-untranslated region (5’UTR) SNP rs6457452 and a promoter SNP rs2763979 (‐1140C?>?T) of HSPA1B with AA was investigated in 236 controls and 228 AA patients. Statistical analyses using the multiple logistic models were done, according to the onset and the clinical features of AA, including the age of onset, family history, type of AA lesion, nail involvement and body hair involvement. The results showed that rs6457452 was associated with the onset of AA (p?<?0.002). In the analysis of clinical features of AA, rs6457452 was weakly related to the age of onset (p?≤?0.04) and that rs2763979 was only weakly related to the type of AA lesion (p?=?0.041). In conclusion, we suggest that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of AA and the T allele of rs6457452 may confer the reduced susceptibility to AA in the Korean population.     

Interleukin-13 Receptor A1 Gene Polymorphism and IL-13 Serum Level in Atopic and Non-atopic Egyptian Children

Objectives: To assess serum interleukin (IL) 13 levels in atopic diseases and to determine the role of IL-13R A₁ gene polymorphism (+1398 A/G) in pathogenesis of these diseases. Methods: Serum total immunoglobulin (Ig) E and IL-13 levels were measured by ELISA and the IL-13R A₁ gene (+1398 A/G) was screened by PCR-restriction fragment length polymorphism (RFLP) in 240 asthmatic children (120 atopic and 120 nonatopic) and 120 allergic rhinitis patients compared with 120 age-matched controls. Results: No significant association was observed between genotype frequencies of the IL-13R A₁ +1398 A/G polymorphism in patients groups compared to in controls. There was a significant increase in serum levels of total IgE & IL-13 towards heterozygous AG and homozygous GG than homozygous AA in atopic asthma, non-atopic asthma and allergic rhinitis groups (P < 0.001 for each). A highly significant increase of serum IL-13 in atopic asthma as compared with controls (P < 0.001) and with nonatopic asthmatics (P < 0.001) was shown. Conclusion: The IL-13R A₁ +1398 A/G polymorphism does not contribute to asthma or allergic rhinitis susceptibility, yet serum IL-13 can be used as a marker in atopic diseases and to differentiate between atopic and non-atopic asthma.