基质金属蛋白酶-2和-9基因多态性与结直肠癌的相关性

目的探讨基质金属蛋白酶（matrix metalloproteinase，MMP）-2和-9基因启动子区多态性与结直肠癌的关系。方法应用变性高效液相色谱法和限制性片段长度多态性分析方法分别检测126例结直肠癌患者和126名正常对照者的MMP-2—1306C/T和MMP-9—1562C／T多态性，分析其基因型与结直肠癌发病风险及临床病理参数的相关性。结果MMP-2—1306C／C基因型频率在结直肠癌组中显著高于对照组（P〈0．05），与CT＋TT基因型携带者比较，CC基因型携带者患结直肠癌的风险约增加2倍（OR：1．959；95％CI：1．055～3．637）。而且在结直肠癌中，MMP-2—1306C／T多态性与肿瘤的浸润深度之间差异有统计学意义（P〈0．05），CC基因型的肿瘤更容易浸润到外膜。MMP-9—1562C／T多态性的基因型及等位基因频率在结直肠癌组和对照组间的分布差异无统计学意义（P〉0．05）。结论MMP-2—1306C／T多态性可能与中国人群结直肠癌的遗传易感性相关，且CC基因型的肿瘤更易浸润到外膜。     

中国汉族人载脂蛋白B基因多态性与冠心病关系的Meta分析

目的对中国汉族人载脂蛋白B基因EcoRⅠ和XbaⅠ酶切位点限制性片段长度多态性与冠心病相关性的研究进行Meta分析。方法通过文献检索收集中国汉族人载脂蛋白B基因EcoRⅠ和XbaⅠ酶切位点限制性片段长度多态性与冠心病关系的病例-对照研究，剔除不符合要求的文献，对入选文献进行一致性检验并根据检验结果进行数据合并，计算总比值比（odds ratio，OR）。结果共6篇关于EcoRⅠ和7篇关于XbaⅠ酶切位点多态性的文献符合条件纳入研究，数据合并结果显示EcoRⅠ多态性位点E^-／E^-＋E^＋／E^-比E^＋／E^＋的OR值为1．73，95％CI为1．11～2．71（P=0．02），XbaⅠ多态性位点X^＋／X^＋＋X^＋／X^-比X^-／X^-的OR值为3．43，95％CI为2．14～5．50（P〈0．01）。结论载脂蛋白B基因EcoRⅠ和XbaⅠ酶切位点多态性与中国汉族人冠心病易感性相关，E^-和X^＋等位基因可能是冠心病的遗传危险因素。     

β1肾上腺素能受体基因389A/G多态性与急性心肌梗死的关系

目的探讨βl肾上腺素能受体基因389A／G多态性与急性心肌梗死（acute myocardial infarcfion，AMI）的关系。方法应用聚合酶链反应-限制性片段长度多态性分析技术检测150例急性心肌梗死患者和150例性别和年龄匹配的对照者的基因型，同时采集相关的临床资料，进行病例．对照统计学分析和多因素参与的回归分析。结果AMI组和对照组在基因型和等位基因频率分布上的差异均有统计学意义（P均〈0．01），A等位基因在AMI组明显高于对照组。在多因素参与的回归分析中，389A／G多态性（OR：2．88，95％CI：1．70—4．88，P〈0．01）、吸烟（OR：2．72，95％CI：1．52—4．88，P〈0．01）、高脂血症（OR：2．85，95％CI：1．68—4．86，P〈0．01）、糖尿病（OR：2．38，95％CI：1．27—4．47，P〈0．01）和高血压（OR：2．00，95％CI：1．62—3．45，P〈0．05）均为AMI的独立危险因素。结论β1肾上腺素能受体基因389A／G多态性与AMI明显相关，为AMI的独立危险因素。     

间隙性连接蛋白37基因1019C/T多态性与经皮冠状动脉介入术后支架内再狭窄的相关性研究

目的 评估无锡地区人群间隙性连接蛋白37(Connexin 37,CX37)基因1019C/T多态性与经皮冠状动脉介入术(percutaneous coronary intervention,PCI)术后支架内再狭窄的相关性.方法 532例PCI术后在我院复查冠脉造影的冠心病患者,按造影结果分为支架内再狭窄组(67例)和无支架内再狭窄组(465例),501名健康人群作为正常对照组,均采用基因测序技术对CX37基因1019C/T多态性位点基因型进行检测,比较3组人群中基因型及等位基因分布差异.结果 (1)在冠心病组与正常对照组比较中,C等位基因及C等位基因携带者(CC+TC)基因型频率冠心病组明显高于正常对照组(C等位基因:57.05％ vs.41.32％,P＜0.01;C等位基因携带者:79.32％ vs.65.47％,P＜0.01)；与TT纯合子相比,(CC+TC)基因型冠心病患病风险显著增加(OR=2.03,95％ CI∶1.53～2.80).对性别进行亚组分析显示,无论男性还是女性人群中冠心病组C等位基因携带者频率均显著高于正常对照组(男性:79.63％ vs.72.45％,P=0.02;女性:78.00％ vs.51.50％,P＜0.01),C等位基因携带者冠心病患病风险明显高于TT型(男性:OR=1.48,95％CI:1.06～2.09;女性:OR=3.34,95％CI∶1.90～5.86).(2)与无支架内再狭窄组相比,支架内再狭窄组C等位基因频率及C等位基因携带者分布频率均显著升高(C等位基因频率:72.39％ vs.54.84％,P＜0.01；CC+TC型:89.55％ vs.77.85％,P=0.027).与TT纯合子相比,C等位基因携带者支架内再狭窄患病风险升高2.44倍(95％ CI∶1.08～5.50).性别亚组分析表明,男性人群中支架内再狭窄组C等位基因携带者频率高于无支架内再狭窄组(92.86％ vs.77.66％,P=0.008),C等位基因携带者发生支架内再狭窄的风险是TT型的3.74倍(95％ CI∶1.32～10.64),而在女性人群中两组间(CC+TC)基因型分布频率无统计学意义(P=0.655).结论 CX37 C等位基因不仅与冠心病的发生发展有关联,而且与男性PCI术后支架内再狭窄的发生发展相关.     

乙肝后肝硬化患者HLA-A、DRB1等位基因多态性研究

目的：了解乙肝后肝硬化患者的HIA-A、DRB1等位基因多态性。方法：用基因芯片分型方法分析比较61例慢性乙肝后肝硬化患者与146例正常人HLA-A、DRB1等位基因的多态性。结果：HLA-A位点中的HIA-A02、11、24与HLA-DRB1位点中的HIA-DRB1*12、09、04为正常人群常见等位基因。乙肝后肝硬化患者组HnA02(43．4％vs29．1％，OR：1．87，P=0．005，95％CI：1．21-2．89)与HLA-DRB1*07(13．9％vs5．1％，OR：3．00，P=0．002，95％CI：1．48-6．07)、HIA-DRB1*08(16．4％vs6．8％，OR：2．67，P=0．003，95％CI：1．40L5．08)、HLA-DRB1*11(12．3％vs5．8％，OR：2．27，P=0．025，95％CI：1．11-4．64)的出现频率较正常对照组明显升高。在HIA-A位点中，乙肝后肝硬化患者组的纯合子比例较正常组有升高趋势，但无统计学意义。结论：HLA-A02与HLA-DRBl*07、08、11可能是乙肝后肝硬化的易感基因。     

G蛋白β3亚单位基因C825T多态性与蒙古族原发性高血压的相关性研究

目的探讨G蛋白β3亚单位基因C825T多态性与蒙古族人群原发性高血压患者之间的关系。方法采用Sequenom系统检测分析方法检测124例健康人和143例高血压患者的G蛋白β3亚单位基因C825T多态性。结果（1）蒙古族人群GNB3基因C825T位点CC、CT、TT基因型频率在高血压组和正常血压组分别为0．48、0．41、0．11和0．43、0．47、0．10，差异无显著性（χ^2=0．162，P=0．688；OR：1．176，95％CI 0．533～2．592）；C、T等位基因频率在高血压组和对照组分别为0．69、0．31和0．67、0．33差异无显著性（χ^2=0．094，P=0．759；OR：0．945，95％CI0．657—1．358）。（2）蒙古族人群GNB3基因C825T位点CC、CT、TT基因型频率在单纯收缩压增高组和正常血压组分别为0．57、0．35、0．08和0，43、0．47、0．10．差异无显著性（χ^2=0．733．P=0．392；OR：1．957，95％CI0．623—6．143）；C、T等位基因频率在单纯高血压组和对照组分别为0．74、0．26和0．67、0．33，差异无显著性（χ^2=2．133，P=0．144；OR：0．697，95％CI0．428—1．133）。结论G蛋白β3亚单位基因C825T位点与蒙古族人群原发性高血压的发生可能无关，不是蒙古族人群原发性高血压的遗传标志．     

白细胞介素6基因-572C/G多态性与心肌梗塞易感性的关联研究

目的观察白细胞介素6（interleukin 6，IL6）基因-572C／G多态性在中国人群中的分布频率、与心肌梗塞（myocardial infarction，MI）易感性的关系、对MI患者冠脉病变程度的影响以及初步对该位点基因变异进行功能性分析。方法应用聚合酶链反应．限制性片段长度多态性方法对232例MI患者和260名正常对照者IL6基因-572C／G多态性进行了分析，观察了该基因多态性对冠脉病变程度及外周血单核细胞（peripheral blood mononuclear cells，PBMC）产生IL6能力的影响。结果中国汉族人群存在IL6基因-572C／G多态性；两组人群基因型、等位基因频率差异存在统计学意义，MI组CG＋GG基因型频率、G等位基因频率均显著高于对照组（P〈0．01）；基因型频率的相对风险分析发现，G等位基因携带者息MI的风险是CC基因型的1．68倍（95％CI：1．17—2．41，P〈0．01）；-572C／G多态性在单支、双支、三支冠脉病变组间的分布差异无统计学意义（P〉0．05）；G等位基因携带者氧化低密度脂蛋白刺激24h PBMC产生IL6的能力明显高于CC基因型（P〈0．05）。结论IL6基因-572G等位基因可能是中国汉族人MI的易感因子，这可能与携带该等位基因的人群存在IL6水平的高表达有关。     

JWA基因启动子-76G→C多态性和膀胱癌易感性关系的配对研究

目的检测JWA启动子单核苷酸多态性（single nucleotide polymorphisms，SNPs），探讨其对基因转录活性的影响和与膀胱癌遗传易感性的相关性。方法应用聚合酶链反应-单链构象多态性和DNA测序的方法，检测了155例膀胱癌病例和155例非肿瘤对照人群的JWA基因启动子多态性位点；构建启动子多态性片段氯霉素乙酰转移酶报告基因重组质粒，瞬时转染NIH．3T3细胞，检测启动子多态性片段对基因转录活性的影响。结果检测到一个新SNP-76G→C；C等位基因和GC基因型频率在膀胱癌病例组为10．00％、20．00％，比正常对照组（5．16％、10．32％）高，差异有统计学意义（P〈0．05）；与GG基因型相比，GC基因型启动子的转录活性显著降低（P〈0．01）。Logistic多元回归分析结果（P〈0．05，OR=2．05）显示这一多态性可能是形成膀胱癌新的独立危险因素。结论JWA基因启动子-76G→C多态性可能影响JWA基因转录和表达，从而增加膀胱癌易感性。     

食管癌发病风险与NAD(P)H:醌氧化还原酶1C609T基因多态性

目的 研究NAD(P)H：醌氧化还原酶l[NAD(P)H：quinone oxidoreductase l，NQO1]C609T基因多态性与食管鳞状上皮癌(esophageal squamous cell carcinoma，ESCC)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193例ESCC患者及141名正常对照的NQOl C609T多态性位点的基因型。结果 ESCC患者的突变型(T)等位基因频率明显高于健康对照组(X^2=4．86，P=0．028)。ESCC患者的NQO1C／C和C／T基因型频率与健康对照组相比差异无显著性(X^2值分别为2．27和0．127；P值分别为0．132和0．721)，而ESCC患者的T／T基因型频率明显高于对照组(X^2=4．39，P=0．036)。与NQOlC／C及C／T基因型相比，T／T基因型可明显增加患ESCC的风险性(校正OR=1．8l，95％CI：1．04～3．15)，且在有上消化道肿瘤家族史的患者中尤为明显(校正OR=2．22，95％CI：1．18～4．17)。结论 对NQO1 C609T多态性位点的基因型检测可能对判断ESCC高危个体具有指导意义。     

HLA Ⅰ、Ⅱ类基因多态性与白塞病的相关性研究

目的 探讨HLAⅠ、Ⅱ类基因在白塞病（BD）易感性中的作用。方法 应用LABType^TM SSO技术（又称序列微珠综合分析实验系统）对40例BD患者及100例正常对照的HLAⅠ、Ⅱ类基因进行检测。结果 与正常对照组相比，BD患HLA＊51（30％vs12％，X^2=5．312，OR=3．143，P〈0．05）、HLA-DRB1＊14（22．5％vs8％，X^2=4．354，OR=3．339，P〈0．05）的频率显著增高，HLA-DRB1＊15（10％vs30％，X^2=5．175，OR=0．259，P〈0．05）的频率显著降低。结论 本研究结果提示HLA-B＊51、HLA-DRB1＊14可能是BD的易感基因，HLA-DRB1＊15可能是BD的保护性基因。     

Association between farm exposure and atopy, according to the CD14 C-159T polymorphism

BACKGROUND: A higher exposure to bacterial compounds is purported to explain the lower prevalence of allergy in farm children, but responsiveness to bacterial compounds is modulated by genetic factors. OBJECTIVE: To assess whether the protective effect of farm exposure on atopy is influenced by a CD14 promoter functional polymorphism. METHODS: We administered a detailed questionnaire on farm exposure in childhood and genotyped the CD14 C-159T polymorphism in 2 French centers participating in the European Community Respiratory Health Survey (ECRHS)-II. RESULTS: Six hundred randomly selected young adults provided blood samples for IgE measurements and had CD14 C-159T genotyped. Exposure to a farming environment in early life was associated with a reduced risk of nasal allergies (odds ratio [OR], 0.54; 95% CI, 0.29-1.00) and atopic sensitization (OR, 0.47; 95% CI, 0.24-0.93) in adulthood. A lower risk of allergic rhinitis and atopy was also observed in carriers of the CD14-159TT genotype compared with -159CC subjects (OR, 0.52; 95% CI, 0.30-0.88; and OR, 0.54; 95% CI, 0.31-0.92, respectively). When farm exposure and CD14 C-159T were considered together, the risk of nasal allergies and atopy was the most reduced in the subjects who combined both an early-life exposure to a farming environment and the -159TT genotype (OR, 0.26; 95% CI, 0.07-0.94; and OR, 0.21; 95% CI, 0.05-0.93, respectively, vs nonexposed -159CC+CT subjects). The results were consistent in the 2 centers, supporting the validity of the results. CONCLUSION: A gene-by-environment interaction between CD14 C-159T and environmental exposure in childhood may modify the development of atopy. CLINICAL IMPLICATIONS: This polymorphism should be considered in interventions studies that use microbial stimuli to reduce sensitization.     

The -159 C-->T polymorphism of CD14 is associated with nonatopic asthma and food allergy

BACKGROUND: CD14, the receptor for LPS, plays an important role in innate immunity. A polymorphism in the promotor for CD14, -159 C-->T, has been implicated in atopy. OBJECTIVE: We explored the relationship of this polymorphism with both atopic and nonatopic asthma, as well as with food allergy. METHODS: Patients with asthma and food allergy were recruited along with nonatopic, nonasthmatic control subjects. The -159 C-->T polymorphism was genotyped by using the PCR-based RFLP assay. RESULTS: The -159 T allele was more common among patients with nonatopic asthma and food allergy than among control subjects (chi(2) = 6.03, P =.01 and chi(2) = 4.94; P =.03, respectively). Patients with food allergy had a 4-fold increased odds of having the TT genotype versus carriers of the C allele compared with control subjects (odds ratio [OR] = 3.9, 95% CI = 1.5-10.3), whereas patients with nonatopic asthma had a 3-fold increased odds of having the TT genotype (OR = 3.1 [95% CI = 1.1-9.1]). Controlling for sex differences between groups did not alter this relationship, which remained significant for patients with food allergy (OR = 3.7 [95% CI = 1.4-10.1]) or nonatopic asthma (OR = 2.7 [95% CI = 0.9-8.0]). We performed a stratified analysis, limited to white patients, to reduce population stratification. The relationship with the TT genotype was stronger in white patients with nonatopic asthma (OR = 4.4 [95% CI = 1.3-14.8]) and patients with food allergy (OR = 5.1 [95% CI = 1.6-16.2]), even adjusting for sex differences (OR = 3.9 [95% CI = 1.1-13.5] and OR = 4.6 [95% CI = 1.4-14.8], respectively). CONCLUSIONS: The TT genotype of -159 C-->T CD14 is associated with nonatopic asthma and food allergy, particularly in white subjects. Thus CD14 is a candidate gene specifically for nonatopic asthma and not for asthma in general. This indicates that atopic and nonatopic asthma might be distinct conditions in their genetic predisposition, despite the fact that they are very similar once they have been established.     

Polymorphisms in the 5' region of the CD14 gene are associated with eczema in young children

BACKGROUND: Variants in the CD14 gene (CD14) are hypothesized to be associated with atopic disorders. However, most studies have only investigated one polymorphism in this gene. OBJECTIVE: We sought to study the association of 5 single nucleotide polymorphisms (SNPs) in the 5' flanking region of CD14 with eczema and serum IgE levels in young children. METHODS: We genotyped 5 SNPs in an approximately 6.5-kb region in the 5' region of CD14 in 344 2-year-old white children from 2 birth cohorts in the northeastern United States. We examined the relation of both single SNPs and haplotypes in CD14 with the atopic outcomes. RESULTS: Two SNPs were significantly associated with eczema. In dominant models adjusted for potential confounders, SNP rs2569193 was associated with significantly decreased risk for eczema (odds ratio [OR] for CT/TT vs CC, 0.5; 95% CI, 0.3-0.8), whereas SNP rs2569190 (also reported as the C-159T) was associated with significantly increased risk for eczema (OR for CT/TT vs CC, 2.3; 95% CI, 1.4-3.8). The CT/TT genotypes of SNP rs2569190 also had higher geometric means of serum IgE than the CC genotype (24.6 vs 15 IU/mL, P = .025). Haplotype analyses provided results similar to those of the single SNP analyses. CONCLUSIONS: Our results contradict previous reports that have found a protective effect of the T allele of SNP rs2569190 (C-159T) against atopic disorders. Nevertheless, these results confirm the importance of polymorphisms in CD14 in the development of atopy, and future studies of this gene region will need to account for linkage disequilibrium and environmental exposures unique to the study population.     

Correlation between LSP1 polymorphisms and the susceptibility to breast cancer

Objective: The present study aimed at assessing the relationship between Leukocyte-specific protein 1 gene (LSP1) polymorphisms (rs569550 and rs592373) and the pathogenesis of breast cancer (BC). Methods: 70 BC patients and 72 healthy subjects were enrolled in the study. Rs569550 and rs592373 polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Odds ratio (OR) with 95% confidence interval (CI) were calculated by the chi-squared test to assess the relationship between LSP1 polymorphisms and BC risk. Linkage disequilibrium (LD) and haplotypes were also analyzed by HaploView software. Results: Genotype distribution of the control was in accordance with Hardy-Weinberg equilibrium (HWE). The homozygous genotype TT and T allele of rs569550 could significantly increase the risk of BC (TT vs. GG: OR=3.17, 95% CI=1.23-8.91; T vs. G: OR=1.63, 95% CI=1.01-2.64). For rs592373, mutation homozygous genotype CC and C allele were significantly associated with BC susceptibility (CC vs. TT: OR=4.45, 95% CI=1.38-14.8; C vs. T: OR=1.70, 95% CI=1.03-2.81). LD and haplotypes analysis of rs569550 and rs592373 polymorphisms showed that T-C haplotype was a risk factor for BC (T-C vs. G-T: OR=1.74, 95% CI=1.04-2.92). Conclusion: LSP1 rs569550 and rs592373 polymorphisms are both risk factors for BC.     

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 -159C/T Polymorphism in the CD14 Gene and Tuberculosis Risk: A Meta-Analysis

Background: The -159C/T polymorphism in the CD14 gene has been implicated in susceptibility to tuberculosis, but the results were inconclusive. The present meta-analysis aimed to perform a comprehensive assessment of the literature on the possible association between the -159C/T polymorphism and tuberculosis risk.Methods: We searched in Pubmed and Embase for studies evaluating the association between the -159C/T gene polymorphism and tuberculosis risk. Data were extracted and statistical analysis was performed using Revman 5.1 and STATA 12.0 software.Results: A total of seven case-control studies involving 3253 subjects (1,574 tuberculosis cases and 1,679 controls) were included. Combined analysis revealed an obvious association between this polymorphism and tuberculosis risk (odds ratio=1.66 and 95% confidence interval: 1.23-2.25, P<0.05 for TT vs. TC+ CC). Sub-group analysis by ethnicity suggested that the risk of tuberculosis associated with the -159C/T polymorphism was significantly elevated among Asians (odds ratio=1.87 and 95% confidence interval: 1.58-2.21, P<0.05 for TT vs. TC+ CC).Conclusion: This meta-analysis suggests that the -159C/T polymorphism in the CD14 gene contributes to tuberculosis susceptibility. To further investigate gene-gene and gene-environment interactions between this polymorphism and tuberculosis risk, more studies are needed.     

The Influences of CD14 −260C>T Polymorphism on Survival in ICU Critically Ill Patients

In order to analyze the effect of the two different versions of the cluster of differentiation 14 (CD14) receptor recognizing gene on survival, we determined the ?260C>T single nucleotide polymorphism (SNP) frequencies in 514 critically ill patients. We compared the ?260TT homozygotes with ?260C allele carriers (?260CC and ?260CT genotypes) and we demonstrated—260TT patients had the highest survival rate (82% vs 64%; p < 0.001; OR = 2.52, 95% CI = 1.43–4.46). We performed binary logistic regression, incorporating both ?260C>T genotype groups and the main clinical predictors to exclude other risk factors that could influence the outcome from critical illness: higher age, APACHE II score, and length of stay at hospital, and the occurrence of sepsis and septic shock were risk factors to Intensive Care Unit (ICU) patient's mortality, but the ?260TT genotype was protective factor toward survival (p = 0.001; OR = 3.08 95%CI = 1.54–5.98). Among septic and septic shock patients, ?260TT genotype was also protective factor toward survival (p = 0.001; OR = 3.11 95%CI = 1.63–6.66 to septic patients, and p = 0.001; OR = 3.80 95%CI = 1.68–8.58 to patients with septic shock). Our results and our hypothesis suggest that the higher ?260TT genotype frequency in ICU survivor patients is possibly explained by a beneficial effect on innate immunity signaling.     

血管紧张素原基因M235T多态性与肥厚型心肌病的关系

目的　探讨血管紧张素原 ( angiotensinogen,AGT)基因 M2 35 T变异与肥厚型心肌病( hypertrophic cardiomyopathy,HCM)的关系。方法　对 72例 HCM患者与 80名正常对照者进行病例 -对照研究。采用聚合酶链反应与限制性片段长度多态性技术检测 AGT基因 M2 35 T变异。同时通过 M型二维超声心动图分别测量室间隔、左室后壁和心尖部心肌厚度。结果　 ( 1)经 PCR扩增及 Tth111 酶切 ,AGT基因型有 3种形式 :MM、TT与 MT基因型。两组 AGT基因型的分布均符合 Hardy- Weinberg平衡。 ( 2 )AGT基因 M2 35 T基因型在 HCM组与对照组的分布差异有显著性 ( χ2 =6 .0 90 ,P<0 .0 5 )。HCM组 TT基因型与 T2 35等位基因的频率均高于对照组 ( TT基因型 :0 .6 3vs0 .4 5 ,OR=2 .0 37,95 % CI:1.0 6 4～7.899,P<0 .0 5 ;T2 35等位基因 :0 .78vs0 .6 4 ,OR=1.990 ,95 % CI:1.197～ 3.30 8,P<0 .0 1)。 ( 3) HCM组TT基因型患者左室壁最厚处平均厚度明显大于 MM、MT基因型患者 [( 19.1± 4 .8) mm vs( 15 .3± 2 .6 )mm与 ( 16 .2± 5 .1) mm,F=4 .2 6 1,P<0 .0 5 ]。结论　 AGT基因 M2 35 T变异与 HCM的发病显著相关 ,TT基因型或 T2 35等位基因可能是参与 HCM发生及加重心肌肥厚的一个遗传方面的危险因素     

Parkin基因多态性与四川地区散发性帕金森病的相关性研究

目的了解四川地区散发性帕金森病parkin基因多态性与帕金森病(Parkinson’s disease,PD)的相关性。方法采用病例-对照研究,应用聚合酶链反应、限制性片段长度多态性、变性高效液相色谱及DNA测序等技术,对四川地区汉族人群198例帕金森病患者和187名正常对照parkin基因-258T/G及IVS3-20T/C多态性位点进行研究,并通过比较各多态性在PD患者和正常对照人群中的频率分布,探讨基因多态性与PD的可能关系。结果parkin基因-258T/G多态性PD组G等位基因频率明显高于对照组(52.5%vs43.3%),两组差异有统计学意义(χ2=6.17,P<0.025,OR=1.45,95%CI:1.04~1.86);进一步将PD组按发病年龄分层发现,只有50岁以上发病患者与对照组相比G等位基因频率差异具有统计学意义(χ2=9.048,P<0.01,OR=1.57,95%CI:1.08~2.06);同样,与对照组(69.51%)相比,PD组TG GG基因型频率(78.79%)亦增加,两者间差异具有统计学意义(χ2=3.854,P<0.05,OR=1.63,95%CI0.88~2.38);PD组不同基因型组间发病年龄差异具有统计学意义(P<0.05),GG基因型组的平均发病年龄比TT或TG基因型的发病晚近5年左右。parkin基因IVS3-20T/C多态性以CC基因型多见,TC型杂合子的频率较低,该实验未发现TT基因型。结论核心启动子区-258T/G多态G等位基因可能增加了四川地区汉族人群散发性PD发生的风险,尤其是50岁以后的发病风险;四川地区汉族人群IVS3-20T/C位点,以CC基因型多见,TC型杂合子的频率较低,无TT基因型。     

Polymorphism in the Promoter Region of the CD14 Gene and Susceptibility to Brucellosis

A single-nucleotide polymorphism in the promoter region of the CD14 gene at position 159 has been implicated in susceptibility to infectious diseases. We sought to determine the association between CD14 C-159 T functional promoter polymorphism and brucellosis in Western Iranian population where the disease is endemic. The CD14 genotype was determined in 228 patients with brucellosis from a rural area and 129 healthy volunteers from the same area. The prevalence of genotype TT was significantly higher in the patients while the controls showed higher prevalence of genotype CC (34.5% vs 15.5%, 15.4% vs 25.6%, P = 0.009). Multiple logistic regression analysis after adjustment for gender demonstrated that the patients who were homozygous for allele T of promoter of CD14 gene had a significantly higher risk for developing brucellosis with odds ratio of 3.03 (95% CI, 5.2, 1.75 P = 0.0004). The existence of homozygous genotype of allele T of CD14 was an independent determinant for occurrence of arthritis among the patients with brucellosis (odds ratio of 3.92 (95% CI, 2.93, 5.88, P = 0.001).Our findings provide suggestive evidence of association of the CD14 gene polymorphism with susceptibility to development of brucellosis in Iranian populations.