CYBA基因多态性与高血压病相关性的研究

目的探讨CYBA基因C242T多态性与高血压病的关系。方法应用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)检测120例高血压病患者和120例健康者CYBA基因C242T多态性。结果高血压病组CC基因型频率为0.68,高于正常对照组CC基因型频率0.53(χ2=5.035,df=1,P=0.034)。高血压病组C等位基因频率为0.84,正常对照组C等位基因频率为0.77,两组无显著性差异(χ2=3.793,df=1,P=0.066)。结论CYBA基因C242T多态性与高血压有明显相关性,T等位基因可能是高血压病保护因素。     

Ace基因多态性与维医异常黑胆质相关性

目的分析血管紧张素转换酶Ace基因多态性与异常黑胆质的关联。方法按照《维吾尔医诊断学》标准诊断喀什地区维吾尔族居民异常黑胆质组515例,诊断正常体液类型308例作为正常体液组,采用高分辨率溶解曲线-聚合酶链反应(HRM-PCR)方法对Ace基因进行基因分型,分析Ace基因8个位点多态性,比较两组基因型和等位基因的分布频率。结果异常黑胆质组和正常体液组Ace基因rs4293位点主要基因型为AG,主要等位基因是A;rs4344位点主要基因型为AG,主要等位基因为A;rs4303位点主要基因型为GG,少数等位基因是T;rs4461142位点主要基因型为CT,主要等位基因是C;rs8075924位点主要基因型为CC,少数等位基因是T;rs4316818位点主要基因型为CT,主要等位基因为T;rs12451328主要基因型为CC,少数等位基因为A;rs4353主要基因型为AG,主要等位基因分别是G、A。异常黑胆质人群Ace基因rs4353位点GG基因型频率(χ2=9.14,P=0.01)及等位基因G频率(χ2=8.16,P=0.01),rs8075924位点等位基因C基因频率(χ2=6.11,P=0.04)均高于正常体液人群,异常黑蛋质组高于正常体液组,差异有统计学意义。两组单倍型比较,rs4461142和rs4353位点A C单倍型分布频率异常黑胆质人群明显高于正常体液人群(χ2=10.33,P=0.001)。结论 Ace基因rs4353位点多态性,rs4461142和rs4353位点A G单倍与异常黑胆质有关联。     

FABP2基因G54A多态性对单纯性肥胖儿童糖脂代谢的影响

目的探讨小肠型脂肪酸结合蛋白(FABP2)基因G54A单核苷酸多态性与儿童单纯性肥胖的关系,分析突变型54A FABP2基因对血脂、血糖代谢的影响。方法筛选83例单纯性肥胖儿童和100例正常对照儿童,采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)技术,检测各组FABP2基因G54A基因型及等位基因分布频率,并经DNA序列测定确证。采用酶法检测空腹血糖(FBG)、血浆甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)水平,放射免疫法测定血浆胰岛素(Ins),ELISA方法测定游离脂肪酸(FFA),计算胰岛素抵抗指数(HOMA-IR)。结果 FABP2基因G54A单核苷酸多态性频率分布为:在超重/肥胖组,G/G、G/A、A/A基因型频率分别为33.7%、49.4%和16.9%;在正常对照组,G/G、G/A、A/A基因型频率分别为51.0%、40.0%和9.0%,差异有统计学意义(χ2=6.27,P0.05)。超重/肥胖组54G、54A等位基因频率分别为58.4%和41.6%;正常对照组54G、54A等位基因频率分别为71.0%和29.0%,两组等位基因分布频率差异有统计学意义(χ2=6.32,P0.05)。血浆生化指标结果显示,与正常组相比,超重/肥胖组的血浆TG(P0.01)、Ins(P0.05)、HOMA-IR(P0.05)均升高,差异有统计学意义。同时,在超重/肥胖组,与G/G野生型携带者比较,A/A纯合子突变型携带者血浆TG水平明显升高(P0.05),血浆Ins、FFA水平和HOMA-IR虽有升高,但差异无统计学意义。结论 FABP2基因G54A多态性与儿童单纯性肥胖发生及其脂类代谢异常有关,54A等位基因可能是促进脂代谢异常和胰岛素抵抗进程的一个潜在因素。     

哈萨克族居民高血压与ACE和AT_1R基因多态性

目的探讨血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性、血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态性与新疆哈萨克族居民原发性高血压关系。方法采用病例对照研究设计,以220例高血压患者为高血压组,220名血压正常者为对照组。应用聚合酶链反应和限制性酶切的方法检测ACE基因I/D与AT1R基因A1166C多态性。结果高血压组中,ACE I/D DD、ID、II 3种基因型的频率分别为43.64%,34.54%,21.82%,对照组中分别为27.72%,48.64%,23.64%,差异有统计学意义(χ2=19.89,P0.01);高血压组中D和I 2种等位基因频率分别为60.91%,39.09%;对照组中分别为47.95%,52.05%,差异有统计学意义(χ2=14.89,P0.01);高血压组中,AT1RA1166C AA和AC2种基因型的频率分别为78.6%,21.4%,对照组中分别为81.4%,18.6%,差异无统计学意义(χ2=0.51,P0.05);高血压组中A和C2种等位基因频率分别为89.3%,10.7%,对照组中分别为90.7%,9.3%,差异无统计学意义(χ2=0.45,P0.05)。结论当个体携带ACE基因DD基因型时,增加患高血压的危险性;AT1R基因A1166C多态性与哈萨克族居民高血压发生无关;ACE基因ATR基因之间可能有交互作用。     

MMP-7和MMP-9基因多态与子宫内膜异位症发病风险的关联研究

目的探讨MMP-7和MMP-9基因启动子区多态性与中国北方妇女子宫内膜异位症遗传易感性的关系.方法采用聚合酶链反应-限制性片段长度多态性技术,检测143例子宫内膜异位症患者和160名健康妇女对照的MMP-7基因启动子区-181A/G多态位点和MMP-9基因启动子区-1562C/T多态位点的基因型.结果子宫内膜异位症患者MMP-7中G等位基因频率（7.3%）明显高于对照组（2.8%）（χ2=6.59,P=0.01）;子宫内膜异位症患者A/A、A/G、G/G三种基因型频率分别为86.0%、13.3%和0.7%,正常对照组则分别为94.4%、5.6%和0%,两者有显著差异（χ2=6.50,P=0.039）;与A/A基因型相比,携带G等位基因能明显增加子宫内膜异位症的发病风险,经年龄校正的OR值为2.71（95%CI：1.19～6.16）.MMP-9中C和T等位基因频率在病例组和对照组分别为88.8%、11.2%及91.9%、8.1%,两组差异无统计学意义（χ2=1.64,P=0.20）;病例组C/C、C/T和T/T基因型频率分别为78.3%、21%和0.7%,对照组则分别为83.8%、16.2%和0%,两者差异亦无统计学意义（χ2=2.31,P=0.32）.与C/C基因型相比,携带T等位基因未能明显增加子宫内膜异位症的发病风险,经年龄校正的OR值为1.41（95%CI：0.79～2.52）.结论MMP-7基因启动子区-181A/G多态与子宫内膜异位症发病存在关联,携带G等位基因可能增加该病的发病风险;未发现MMP-9基因启动子区-1562C/T多态性则与子宫内膜异位症发病存在关联.     

汉族及哈萨克族IL-6基因-174G/C多态性及CRP基因+1059G/C多态性与代谢综合征的相关性研究

[目的]探讨新疆哈萨克族及汉族IL-6基因-174G/C及哈萨克族CRP基因+1059G/C多态性与代谢综合征(MS)的相关性。[方法]应用PCR-RFLP方法分别对新疆哈萨克族及汉族200例MS组及201例对照组IL-6基因-174G/C位点及哈萨克族200例MS组及201例对照组CRP基因+1059G/C位点进行检测。[结果]①IL-6-174G/C位点:哈萨克族两组中GG型频率分别为94.00%和98.50%,GC型分别为6.00%和1.50%,在MS组中CC型有1例被检出,两组基因型对比差异有统计学意义(χ2=5.66,P﹤0.05),G和C等位基因频率分别为97.00%和3.00%,对照组分别为99.30%和0.70%;两组等位基因频率差异有统计学意义(χ2=5.55,P﹤0.05),以G等位基因为参照,C等位基因的OR值为4.12(OR95%CI:1.38～12.29);汉族两组中GG型频率分别为93.43%和97.51%,GC型分别为6.57%和2.49%,CC型在两组中未检出,两组基因型差异有统计学意义(χ2=4.52,P﹤0.05),MS组中G和C等位基因频率分别为96.71%和3.29%,对照组中分别为98.76%和1.24%,G和C等位基因频率在两组间差异有统计学意义(χ2=4.42,P﹤0.05),以G等位基因为参照,C等位基因的OR为2.88(OR95%CI:1.08～7.70);两民族MS组及对照组IL-6-174位点基因型及等位基因频率的差异均无统计学意义(P﹥0.05);②CRP+1059G/C位点:MS组与对照组GG基因型频率分别为93.00%和99.00%,GC基因型频率分别为7.00%和1.00%,CC基因型未检出,G和C等位基因频率在MS组分别为96.50%和3.50%,两组基因型差异有统计学意义(χ2=9.43,P﹤0.01),等位基因频率差异有统计学意义(χ2=9.24,P﹤0.01),以G等位基因为参照,C等位基因的OR值为7.25(2.04～25.76)。[结论]哈萨克族和汉族IL-6-174G/C及哈萨克族CRP+1059G/C基因多态性与MS有一定关联。     

血管紧张素II1型受体A1166C多态性与北京地区原发性高血压的关系

目的探讨血管紧张素II1型受体(AT1R)基因A1166C多态性与北京地区原发性高血压的关系。方法对249例原发性高血压患者进行AT1R基因A1166C多态性测定。结果⑴检出CC基因型1例(0.4%),AC基因型26例(10.4%),AA基因型222例(89.2%);A等位基因频率为94.3%;C等位基因为5.7%。与国内林从容等的研究基因型分布和等位基因频率比较差异无统计学意义(P均>0.05);与西班牙和法国研究基因型与等位基因频率均差异有统计学意义(P均<0.0001);而西班牙和法国人群之间基因型与等位基因频率差异没有统计学意义(P=0.609,0.513)。⑵AA基因型患者收缩压较AC CC基因型高,分别为(150.0±21.1)mmHg与(138.1±22.3)mmHg,差异有统计学意义(P<0.01);舒张压具有同样趋势[(92.6±12.7)mmHg:(89.8±13.2)mmHg,P=0.342)]。结论AT1R基因A1166C多态性分布在不同种族之间显著不同。AT1R基因A1166C多态性AA基因型可能与北京地区原发性高血压人群血压升高有关。     

上皮细胞钠离子通道G（-173）A多态性与新疆哈族原发性高血压关联性分析

目的探讨上皮细胞钠离子通道（ENaC）γ亚单位启动子区G（-173）A多态性与新疆哈萨克族原发性高血压（EH）之间的关系。方法采用Taqman探针技术,对新疆哈萨克族466例原发性高血压患者和259例血压正常者进行SCNN1G基因G（-173）A位点的多态性检测,研究高血压组和对照组间基因型和等位基因的频率分布,并采用多元Logistic回归法分析该基因多态性和其他危险因素对高血压表型的作用。结果GG、GA和AA基因型在EH组中的频率分别为52.8%、41.8%和5.4%,在对照组中为52.5%、41.3%和6.2%;G、A等位基因频率在EH组中分别为73.7%、26.3%,在对照组中分别为73.2%、26.8%;基因型和等位基因频率分布在两组间均没有统计学意义（P＆gt;0.05）;通过多元Logistic回归法分析校正年龄、性别、肥胖指数、胆固醇、甘油三酯、血糖混杂因素之后,SCNN1G基因G（-173）A位点的多态性未进入方程。结论在新疆哈萨克族群体中存在G（-173）A位点变异,但该变异可能与新疆哈萨克族原发性高血压不相关。     

维生素D受体基因TAQI多态性及其缺乏性佝偻病易感因素研究

【目的】　通过研究维生素D受体 (vitaminDreceptor ,VDR)基因多态性与维生素D缺乏性佝偻病易感性的相关性 ,探讨维生素D缺乏性佝偻病的遗传易感因素。　【方法】　利用限制性内切酶TaqⅠ ,应用聚合酶链反应 限制性片断长度多态性分析及基因测序等技术测定 3 4例维生素D缺乏性佝偻病患儿和 5 2例正常儿童的VDR基因多态性 ,比较两组VDR基因型和等位基因的分布频率。　【结果】　在佝偻病患儿中TT、Tt、tt基因型分布频率分别为 88.2 %、11.8%、0 % ,T、t等位基因的分布频率分别为 94.1%、5 .9%。而正常对照组TT、Tt、tt基因分布频率分别为 90 .4%、9.6%、0 % ,T、t等位基因的分布频率为 95 .2 %、4.8%。佝偻病组和正常对照组TT、Tt、tt三种基因型分布频率差异无显著性 (χ2 =0 .0 0 9,P >0 .0 5 ) ,两组T和t等位基因的分布频率差异亦无显著性 (χ2 =0 .12 3 ,P >0 .0 5 )。　【结论】　VDR基因TaqⅠ酶切位点多态性与维生素D缺乏性佝偻病发病无关联。     

WNK4基因多态与新疆哈萨克族原发性高血压病的关系

目的 探讨WNK4基因外显子8 G1155942T多态性是否为中国新疆哈萨克族人群原发性高血压病的遗传易感因素.方法 应用TaqMan探针技术检测563例哈萨克族原发性高血压病患者和346名血压正常者的WNK4基因G1155942T位点多态性.采集静脉血测定空腹血糖(GLU)、TG和TC等生化指标.logistic回归分析各基因型和等位基因频率与新疆哈萨克族原发性高血压的关系.运用相加模型研究WNK4基因G1155942T变异与环境之间交互作用对高血压病发病的影响.结果 G1155942T位点多态性的分布符合Hardy-Weinberg平衡.G1155942T多态位点基因型频率差异有统计学意义(P=0.004),等位基因频率的分布也有统计学意义(P=0.003).多元logistic回归显示年龄、BMI、TC及G1155942T位点GT+TT基因型携带者高血压患病危险显著增高.G1155942T变异与性别之间交互作用的OR值为3.75(95%CI:1.19～11.80),与BMI之间交互作用的OR值为5.77(95%CI:1.93～17.21),与GLU之间交互作用的OR值为8.67(95%CI:1.03～72.99).结论 WNK4基因G1155942T多态与原发性高血压发病相关,T等位基因可能是哈萨克族人群高血压发病的风险因子.WNK4基因G1155942T变异与性别、BMI、GLU之间对高血压病具有正相加交互作用.     

The human drama of genetics: 'hard' and 'soft' media representations of inherited breast cancer

This paper examines media coverage of 'breast cancer genetics', and explores its implications for public understanding. We present a content analysis of coverage in British newspapers and look at a variety of popular forms, including women's magazines, television soap opera and radio drama. Genetic/inherited risk receives a great deal of coverage across a wide range of media formats and outlets. Much of this attention has focused on individuals from 'high risk families' and dilemmas around prophylactic mastectomies. Through examining media coverage, combined with interviews with media personnel and their sources, we show why this story proved so attractive to the media and highlight the different production values which influence coverage. Finally, we introduce preliminary findings from focus group discussions to demonstrate how such 'human interest' framing has engaged audience attention and influenced public understandings. The paper concludes by highlighting the implications for analysing, predicting, and engaging with, media representations of science.     

Worker education in the primary prevention of occupational dermatoses

This paper reports the evaluation of a skin care education programmeconducted on a fine chemicals manufacturing site where over1,000 employees are located. Approximately 60% are involvedin chemical manufacture. Over a 12 month period production staffreceived training in prevention of occupational dermatoses linkedto a site-wide poster initiative. The incidence of new casesof occupational dermatoses fell from 0.055 (70 cases in 1,277employees) to 0.021 (27 cases in 1,277 employees) before andafter the intervention respectively (p<0.0001). After otherfactors such as chemicals handled, observer bias and changesin reporting related to socioeconomic climate were taken intoaccount it is concluded that this study demonstrates the importanceof worker education as a tool for primary prevention of disease.Training materials such as video and poster presentations maybe effectively used in the chemical manufacturing industry asan adjunct to prevention and control of exposure to substanceshazardous to the skin. Such methods may also be used in otherindustries where there are significant risks of dermatoses.     

Regional Variation in Travel-related Illness acquired in Africa,March 1997–May 2011

To understand geographic variation in travel-related illness acquired in distinct African regions, we used the GeoSentinel Surveillance Network database to analyze records for 16,893 ill travelers returning from Africa over a 14-year period. Travelers to northern Africa most commonly reported gastrointestinal illnesses and dog bites. Febrile illnesses were more common in travelers returning from sub-Saharan countries. Eleven travelers died, 9 of malaria; these deaths occurred mainly among male business travelers to sub-Saharan Africa. The profile of illness varied substantially by region: malaria predominated in travelers returning from Central and Western Africa; schistosomiasis, strongyloidiasis, and dengue from Eastern and Western Africa; and loaisis from Central Africa. There were few reports of vaccine-preventable infections, HIV infection, and tuberculosis. Geographic profiling of illness acquired during travel to Africa guides targeted pretravel advice, expedites diagnosis in ill returning travelers, and may influence destination choices in tourism.     

Self-reported health problems among Swedish miners one year after unemployment

Unemployment is considered to be a public health concern sincedeterioration in the health of the unemployed is often anticipated.However, for some groups, such as miners, unemployment mightimprove health due to a cessation of potentially harmful occupationalexposures. This study evaluates the health of 79 miners in oneSwedish iron-ore mine, and 226 age-matched controls from thegeneral population, during one year after the closure of themine. The participants received a questionnaire regarding medicalhistory and subjective symptoms at the beginning of the studyperiod, and after one year. Statistically significant negativeeffects on self-reported health attributable to unemploymentwere not found, although neuropsychiatric symptoms were morecommon among the unemployed miners. The miners reported a statisticallysignificant improvement in grip force (p=0.031). They had asignificantly higher prevalence of symptoms associated withmining related exposures when compared with the population controls;pain in the upper extremities [relative risk (RR)=2.27, 95%confidence interval (Cl)=1.44–3.59), back pain (RR=1.84;Cl=1.237–2.75), vasospastic disease of the fingers (RR=2.05;Cl=1.18–3.57) and obstructive respiratory symptoms (attacksof dyspnea and wheezing: RR=3.67; Cl=1.167–11.6).     

Excès de cas humains et animaux de tularémie en France au cours de l’hiver 2007–2008 : émergence ou phénomène isolé ?

Context

Tularemia is a zoonosis affecting humans and hares in France. We describe the results of surveillance in both species, in 2007 and 2008.

Methods

Human tularemia cases are mandatorily notifiable in France since 2003. In hares, surveillance relies on volunteer hunter associations in all districts of the country. Data from mandatory reports and volunteer surveillance in 2007/2008 were analyzed and compared with previous results.

Results

In 2007/2008, 144 cases were reported in humans and 117 cases in hares. This was a 100% increase compared to previous years. Human cases differed from those of previous years only by the frequency of contact with breeding animals. Human cases without any documented risk exposure were also more frequent.

Conclusion

An increase of tularemia cases occurred in 2007/2008 in both species. Complementary studies are needed to identify the species reservoir in France to understand the causes of this peak of cases.     

The design of hazard risk assessment matrices for ranking occupational health risks and their application in mining and minerals processing

Two hazard risk assessment matrices for the ranking of occupational health risks are described. The qualitative matrix uses qualitative measures of probability and consequence to determine risk assessment codes for hazard-disease combinations. A walk-through survey of an underground metalliferous mine and concentrator is used to demonstrate how the qualitative matrix can be applied to determine priorities for the control of occupational health hazards. The semi-quantitative matrix uses attributable risk as a quantitative measure of probability and uses qualitative measures of consequence. A practical application of this matrix is the determination of occupational health priorities using existing epidemiological studies. Calculated attributable risks from epidemiological studies of hazard-disease combinations in mining and minerals processing are used as examples. These historic response data do not reflect the risks associated with current exposures. A method using current exposure data, known exposure-response relationships and the semi-quantitative matrix is proposed for more accurate and current risk rankings.     

Occupational health hazards in mining: an overview

This review article outlines the physical, chemical, biological, ergonomic and psychosocial occupational health hazards of mining and associated metallurgical processes. Mining remains an important industrial sector in many parts of the world and although substantial progress has been made in the control of occupational health hazards, there remains room for further risk reduction. This applies particularly to traumatic injury hazards, ergonomic hazards and noise. Vigilance is also required to ensure exposures to coal dust and crystalline silica remain effectively controlled.     

Manufacture and use of nanomaterials: current status in the UK and global trends

This paper provides an overview of the production and use of nanomaterials (NMs), particularly in the UK. Currently, relatively few companies in the UK are identifiable as NM manufacturers, the main emphasis being the bulk markets in metals and metal oxides, and some niche markets such as carbon nanotubes and quantum dots. NM manufacturing in the UK does not reflect the global emphasis on fullerenes, nanotubes and fibres. Some assumptions have been made about the types of NM that are likely to be imported into the UK, which currently include fullerenes, modified fullerenes and other carbon-based NMs including nanotubes. Many university departments, spin-offs and private companies have developed processes for the manufacture of NMs but may only be producing small quantities for research and development (R&D) purposes. However, some have the potential to scale up to produce large quantities. The nanotechnology industry in the UK has strong R&D backup from universities and related institutions. This review has covered R&D trends at such institutions, and appropriate information has been added to a searchable database. While several companies are including NMs in their products, only a few (e.g. manufacturers of paints, coatings, cosmetics, catalysts, polymer composites) are using nanoparticles (NPs) in any significant quantities. However, this situation is likely to change rapidly. There is a need to collect more information about exposure to NPs in both manufacturing and user scenarios. As the market grows, and as manufacturers switch from the micro- to the nanoscale, the potential for exposure will increase. More research is required to quantify any risks to workers and consumers.     

The rise and fall in incidence of malignant mesothelioma from a British Naval Dockyard, 1979-1999

BACKGROUND: The incidence of malignant mesothelioma in Britain is predicted to rise over the next 15-25 years because of past failure to protect the workforce against inhalation of asbestos. In British Naval dockyards, alternative insulation materials and respiratory protection were introduced from the mid-1960s. Aims This study was carried out to investigate the effects of these control measures on mesothelioma deaths in dockyard workers. METHODS: Cases of mesothelioma of the pleura and peritoneum between 1979 and 1999 in workers from the Devonport Naval Dockyard, south-west England, were sought from coroners' and medico-legal records. RESULTS: Three hundred and one cases were identified, 7% peritoneal. The peak incidence occurred in 1991 with 25 cases per annum (quadratic model fit R(2) = 74.2%, P < 0.001) and we predict that by 2003 the incidence will fall to fewer than five cases per annum. The mean time between first exposure and presentation was 48.5 years [95% confidence interval (CI) = 47.3-49.8], but this was significantly shorter in the more heavily exposed trades, when compared with the less heavily exposed (42 years, 95% CI = 39.0-45.0, versus 49.5 years, 95% CI = 48.2-50.9). Those with higher exposure were also at significantly greater risk of peritoneal disease (P < 0.023, Fisher's exact test). CONCLUSION: The reduction in incidence of mesothelioma is greater than can be accounted for by reduction in numbers of dockyard workers over the last 50 years. Changes in insulation materials and improved industrial hygiene measures introduced into the Devonport Dockyard from the mid-1960s have resulted in an earlier decline in the incidence of malignant mesothelioma than that predicted for the British workforce as a whole.