SMAD4基因多态性与煤工尘肺易感性

目的 探讨SMAD4基因单核苷酸多态性(SNPs)与煤工尘肺易感性的关系.方法 采用病例-对照的研究方法,选择438例煤工尘肺患者为病例组,448例同单位、同工种、工龄接近、无尘肺的煤尘接触者为对照组,进行统一的问卷调查;拍摄高仟伏X线后前位胸片;采集外周静脉血,酚-氯仿法提取DNA;根据中国人群HapMap database数据库查找SNP位点,多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测SMAD4 6个SNPs位点的基因型.结果 6个SNPs位点的基因型分布频率中,仅SMAD4(rs10502913)病例组和对照组各基因型分布频率比较,差异有统计学意义(x2=6.512,P=0.038).携带SMAD4(rs10502913)AA基因型者发生煤工尘肺的危险性明显增高(调整后OR=1.63,95%CI=1.00～2.69,P=0.05);以是否吸烟为分层分析显示,携带SMAD4(rs10502913)AG基因型的不吸烟者发生煤工尘肺的危险性降低(调整后OR=0.54,95%CI=0.37～0.78,P＜0.01),而携带SMAD4(rs10502913)AG、AA基因型的吸烟者发生煤工尘肺危险性均增高(AG调整后OR=1.59,95%CI=1.01～2.50,P＜0.05;AA调整后OR=2.28,95%CI=1.09～4.80,P＜0.05);以煤工尘肺分期为分层分析显示,Ⅰ期尘肺组携带SMAD4(rs10502913)AA基因型者发生尘肺的危险性是携带GG型的2.42倍(调整后OR=2.42,95%CI=1.41～4.14,P＜0.01).携带SMAD4(rs9304407)GG基因型者煤工尘肺患病危险性与CC基因型比较明显降低(调整后OR=0.65,95%CI=0.43～0.98,P＜0.05);以是否吸烟为分层分析显示,不吸烟携带SMAD4(rs9304407)GC、GG基因型者发生煤工尘肺危险性明显降低(GC基因型调整后OR=0.60,95%CI=0.36～1.00,P＜0.05;GG基因型调整后OR=0.43,95%CI=0.25～0.74,P＜0.01).结论 SMAD4(rs10502913)位点AA基因型增加了煤工尘肺的危险性,SMAD4(rs9304407)位点GG基因型可能在尘肺的发生发展中起保护性作用.     

凋亡信号通路基因多态性与煤工尘肺易感性

目的 探讨凋亡信号通路基因细胞凋亡基因(FAS)、FAS配体基因(FASL)、半胱氨酸-天冬氨酸蛋白质酶(CASP8)及CASP3单核苷酸多态性(SNP)与煤工尘肺易感性的关系.方法 采用病例-对照的研究方法,选择511例煤工尘肺患者为病例组,530例同单位、同工种、且工龄相近、未患尘肺的煤尘接触者为对照组;聚合酶链反应-限制性片段长度多态性( PCR-RFLP)法检测5个SNP位点的基因型;CASP3 rs 6948位点用荧光定量PCR法进行基因分型.结果 煤工尘肺组和对照组6个多态性位点的各基因型的分布频率比较,差异无统计学意义(P＞0.05).CASP8-652位点的6个碱基缺失(DD型)可明显增加煤工尘肺患病的危险性(调整后OR=1.96,95％ CI=1.15～3.33,P=0.013),其他各基因型对煤工尘肺患病危险性没有明显的影响;对CASP8-652 I＞D基因多态性进行分层分析发现,工龄≥28年组、吸烟组及1期煤工尘肺携带CASP8-652 DD基因型者煤工尘肺的患病危险性明显增高,差异有统计学意义(P＜0.05).6个多态性位点不同基因型之间的相互作用与煤工尘肺患病的关联性分析发现,携带FAS-1377GG/CASP8-652DD型者、携带FAS-670AG/CASP8-652DD型者和携带FASL-844CT/CASP8-652DD型者煤工尘肺患病危险性明显增加;携带FAS- 1377GA/CASP8-652ID型者煤工尘肺患病危险性明显降低.对Ⅰ期煤工尘肺患者中CASP8-652位点II、ID、DD 3种基因型携带者发病前的粉尘暴露时间进行回归分析,差异无统计学意义(P＞0.05).Ⅰ期煤工尘肺患者中不同基因型携带者发病前的粉尘暴露时间比较,差异无统计学意义(P＞0.05).结论 CASP8-652缺失基因型在煤工尘肺病变的发展过程中可能起一定的作用,并且与FAS- 1377、FAS-670及FAL-844存在基因相互作用.     

江西省特发性矮小症与IGF-1R基因多态性相关性研究

目的探讨江西省特发性矮小症与人胰岛素样生长因子受体-1(insulin-like growth factor type 1receptor,IGF-1R)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)位点遗传易感性的关系,为研究ISS的病因提供新的思路。方法选择江西省295例特发性矮小症(idiopathic short stature,ISS)患儿(ISS组),314名身高正常儿童(对照组),用SNaPshot技术平台进行基因分型。结果江西省ISS患者rs2684788位点等位基因(G vs.A,OR=1.685,95%CI=1.272,2.233,P0.001)、不同基因型(GG vs.GA vs.AA,χ2=13.724,P0.001)与ISS遗传易感性有关,呈G显性遗传模式(GG+GA vs.AA:OR=1.887,95%CI=1.352~2.634,P0.001);ISS组rs2684788位点(GG+GA)基因型与IGF-1SDS比较差异有统计学意义,提示(GG+GA)基因型与IGF-1SDS值有关(P=0.004)。结论人IGF1R基因rs2684788位点可能与江西省ISS的遗传易感性有关;ISS不同的临床表型可能和SNP位点多态性有关。     

膜联蛋白A5-1C/T基因多态性与煤工尘肺易感性

目的 探讨AnnexinA5基因多态性(-1C/T)在煤工尘肺患者发病遗传易感性中的作用.方法 采用病例-对照研究方法,选择470例汉族煤工尘肺病例为观察对象,428例汉族煤尘接触者为对照,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测AnnexinA5-1C/T位点的基因多态性,分析多态位点与煤工尘肺的关系.结果 煤工尘肺组与对照组各基因型分布频率差异无统计学意义(P＞0.05).调整年龄及吸烟混杂因素后,以CC基因型为参比,粉尘暴露时间较长(≥27年)且携带CT/TT基因型者患煤工尘肺的危险性降低(P=0.039),OR值为0.65 (95％CI:0.44～0.98);对Ⅱ期煤工尘肺病例,调整了年龄、接尘工龄和吸烟率后,携带CT/TT等位基因的个体患煤工尘肺的危险性降低(P±0.028),OR值为0.55 (95％CI:0.34～0.90).结论 AnnexinA5-1C/T多态性位点可能影响中国汉族人群煤工尘肺的发生.     

肿瘤坏死因子-α和转化生长因子-β基因多态性与尘肺易感性的Meta分析

目的 评价肿瘤坏死因子-α(TNF-α)238、转化生长因子-β(TGF-β)(509和869)位点基因多态性与尘肺易感性.方法 检索Elsevier、PubMed、Wiley Online Library、EMCC、Web of Science外文数据库和中国期刊全文数据库、维普数据库、万方数据库、中国生物医学文献数据库中文数据库及Cochrane图书馆文献(1988年1月至2011年8月),收集上述基因位点与尘肺易感性的病例对照研究或队列研究.共检索到28篇相关文献,20篇纳入研究.应用RevMan4.2软件对各研究结果进行异质性检验和效应值合并.结果 20篇纳入研究中有TNF-α238位点文献10篇(涉及2232例尘肺患者和1985例对照人群),TGF-β509位点文献4篇(涉及693例尘肺患者和663例对照人群),TGF-β869位点文献6篇(涉及1450例尘肺患者和1101例对照人群).Meta分析结果表明,TNF-α238位点基因多态性与尘肺易感性相关:携带GA+AA基因型的个体患尘肺的风险性高于GG基因型个体(OR=1.53,95％CI:1.25～1.88);携带A等位基因的个体患尘肺的风险性高于G等位基因个体(OR=1.64,95％CI:1.17～2.30);分层分析显示,矽肺人群、亚洲人群和接尘工人中携带GA+AA基因型和A等位基因患尘肺的风险性增高(OR=2.14,95％ CI:1.20～3.82;OR=2.16,95％CI:1.20～3.88;OR=1.78,95％ CI:1.01～3.11;OR=1.83,95％CI:1.04～3.22;OR=1.80,95％CI:1.21～2.66;OR=1.50,95％CI:1.23～1.83).TGF-β(509和869)位点基因多态性与尘肺易感性的相关性无统计学意义:携带CT+TT基因型个体患尘肺的风险性不高于CC基因型(OR=1.56,95％CI:0.81～3.01;OR=0.96,95％CI:0.79～1.18),携带T等位基因的个体患尘肺的风险性不高于C等位基因(OR=1.35,95％CI:0.86～2.13;OR=1.02,95％CI:0.91～1.15).结论 TNF-α238 位点基因多态性与尘肺易感性有关,TGF-β(509和869)位点基因多态性与尘肺易感性无关.     

脑钠肽基因多态性与先天性心脏病易感性的相关性研究

目的研究博罗地区人群中脑钠肽(NPPB)基因的SNP位点(rs198389和rs198388)与先天性心脏病易感性的相关性。方法利用多重SNa Pshot技术,检测30例先天性心脏病患者和30例正常对照NPPB基因SNP位点(rs198389和rs198388)的基因型,评价NPPB基因多态性位点与先天性心脏病遗传易感性的相关性。结果 NPPB基因rs198389位点3种基因型(AA、AG和GG)分布频率在CHD病例组中分别为43.3%、36.7%和20.0%,与对照组相比差异有统计学意义(p<0.05),AG基因型和GG基因型均能增加先天性心脏病的发病风险(OR=3.76,95%CI=2.14~5.02;OR=2.25,95%CI=1.05~3.34);NPPB基因rs198388位点的基因型(AA和GG)分布频率在CHD病例组中分别为20.0%和63.3%,与对照组相比差异有统计学意义(p<0.05),GG基因型能增加先天性心脏病的发病风险(OR=5.68,95%CI=4.86~7.05)。结论博罗地区人群中,脑钠肽(NPPB)基因的SNP位点(rs198389和rs198388)与先天性心脏病的遗传易感性相关。     

TERT基因rs2736100位点多态性与中国人群肺癌易感性关联的Meta分析

目的探讨TERT基因rs2736100位点多态性与中国人群肺癌易感性的关联。方法检索PubMed、CNKI、万方、维普等数据库,收集以中国人群为研究对象的关于rs2736100位点多态性与肺癌易感性关联的文献,用RevMan 5.0软件进行Meta分析,并评估文献的发表偏倚。结果最终纳入12篇文献,累计病例组8 651例,对照组11 484例。Meta分析结果显示,rs2736100位点的等位基因模型(G vs T)增加了肺癌的易感性[OR=1.23,95%CI:1.18～1.28,P0.01]。进一步根据基因分型进行分层研究,结果表明显性基因模型(GG+GT vs TT)[OR=1.31,95%CI:1.24～1.40,P0.01]、隐性基因模型(GG vs GT+TT)[OR=1.30,95%CI:1.21～1.40,P0.01]、共显性基因模型(GG vs TT)[OR=1.50,95%CI:1.38～1.63,P0.01和共显性基因模型(GT vs TT)[OR=1.26,95%CI:1.18～1.35,P0.01]均增加了肺癌的易感性。结论 TERT基因上的rs2736100位点多态性与中国人群肺癌的易感性密切相关,携带有rs2736100-G等位基因的基因型增加了肺癌的发病风险。     

二肽基肽酶9基因单核苷酸多态性与煤工尘肺的相关性

目的探讨二肽基肽酶9基因(DPP9)rs12610495位点单核苷酸多态性(SNP)与唐山地区汉族人群煤工尘肺(CWP)的相关性。方法采用基质辅助激光解吸电离子飞行时间质谱技术(MALDI-TOF MS)对652例CWP患者和648例接尘健康对照者DPP9基因的rs12610495位点分型,采用PLink 1.07软件对SNP位点基因型和等位基因频率及遗传模型进行分析。结果与对照组比较,CWP组DPP9基因rs12610495位点的基因型和等位基因频率均无明显变化,差异无统计学意义(χ~2=1.731、0.565,P0.05)。遗传模型分析显示,DPP9基因rs12610495位点在相加、显性及隐性三种遗传模型下的基因型分布比较,差异均无统计学意义(OR=1.087、0.987、1.964,95%CI=0.870~1.358、0.659~1.478、0.527~7.314,P均0.05)。结论 DPP9基因rs12610495位点单核苷酸多态性可能与唐山地区汉族人群CWP的易感性无关。     

广东汉族人群GLUT4基因多态性与冠心病关系

目的探讨中国广东汉族人群葡萄糖转运蛋白-4(GLUT4)基因多态性与冠心病易感性之间的关系。方法采用多重单核苷酸多态性(SNP)分型试剂盒,对筛选的2个tag SNP位点(rs16956647、rs5435)在1 044例冠心病患者和1 349例非冠心病患者为对照进行基因分型;采用遗传分析软件Plink和统计分析软件SPSS 17.0分析SNP位点与冠心病的关联性。结果 SNP rs5435未满足Hardy-Weinberg平衡条件,予以剔除。校正性别、年龄、高血压、糖尿病、吸烟史、总胆固醇、甘油三酯、心率和体质指数后,rs16956647基因型与冠心病存在明显关联[加性模型:P=0.016,OR=0.80(95%CI=0.67~0.96);显性模型:P=0.002,OR=0.71(95%CI=0.57~0.89)]。进一步按是否患糖尿病分层后进行基因型关联分析,结果显示仅在糖尿病组rs16956647位点与冠心病呈显著关联[加性模型:P=0.048,OR=0.82(95%CI=0.67~0.99);显性模型:P=0.007,OR=0.72(95%CI=0.56~0.91)]。结论在中国广东汉族人群中,GLUT4基因多态性与冠心病易感性之间的关联可能与患者胰岛素抵抗有关。     

HMGB1基因多态性与豫北地区肺结核易感性的相关性

目的探讨高迁移率族蛋白1(HMGB1)单核苷酸多态性与豫北地区肺结核患者易感性的相关性。方法选取2017年1—12月新乡医学院第一附属医院被确诊为肺结核的320例患者为结核组,该院同时期300名健康体检者为对照组。采用PCR技术和Sanger测序对结核组和对照组的HMGB1 rs1412125(-1615A/G)、rs1045411(+1177G/A)、rs2249825(+3814C/G)位点进行基因分型,通过对两组等位基因频率、基因型频率及四种遗传模型(共显性、显性、隐性和超显性)分析,研究HMGB1基因多态性与肺结核的易感性。结果所有位点的基因型分布均符合Hardy-Weinberg平衡。两组间+1177G/A位点等位基因频率差异具有统计学意义(OR=1.485,95%CI:1.110～1.986,P=0.007),其基因型分布差异也具有统计学意义(P0.05);+1177G/A位点的共显性模型中,与GG基因型相比,AG基因型(OR=1.447,95%CI:1.025～2.041,P=0.035)和AA基因型(OR=2.812,95%CI:0.985～8.033,P=0.045)与肺结核的易感性相关;+1177G/A位点的显性模型[(AG+AA)vs GG,OR=1.524,95%CI:1.090～2.131,P=0.014]也与肺结核的易感性相关;在+1177G/A位点的隐性模型和超显性模型中,两组间差异无统计学意义(P0.05)。在-1615A/G和+3814C/G位点两组间等位基因及基因型分布差异均无统计学意(P0.05)。结论 HMGB1基因rs1045411(+1177G/A)位点多态性可能与肺结核的易感性相关,其等位基因A可能是肺结核的易感基因,携带rs1045411(+1177G/A)A等位基因可能增加患肺结核的风险。     

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.     

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.     

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.     

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.     

Investigating clusters in the workplace and beyond

Clusters of disease are common and occur in the workplace and in the general community. They often arouse considerable concern among the population. Investigations have sometimes lead to exciting new knowledge, but in general the investigation of clusters is difficult and often unrewarding, especially for community clusters. In the workplace, investigations are more likely to find associations and even new causes, but still many clusters remain enigmatic. Despite this, there are many reasons for investigating clusters, including allaying community concern and identifying uncontrolled exposures. A structure for investigating clusters in the workplace is suggested.