ALDH2基因多态性与男性饮酒行为关系的分子流行病学研究

目的 探讨乙醛脱氢酶基因(acetaldehyde dehydrogenase gene 2,ALDH2)多态性与男性饮酒行为的关系.方法 采用TaqMan对823名正常男性ALDH2的9个标签单核苷酸多态性位点(single-nucleotide polymorphism,SNP)进行分型,使用Logistic回归分析基因型与饮酒行为的关系.结果 调整年龄、受教育、婚姻、收入和吸烟后,5个SNP与饮酒行为的关联具有统计学意义(rs671 (G＞ A),OR=0.35,95％ CI:0.27～0.45,P＜0.001;rs2283354(G＞A),OR =1.61,95％ CI:1.26 ～2.05,P＜0.001;rs4767939(G＞A),OR=1.46,95％ CI:1.01 ～2.11,P=0.042;rs79073142(T＞C),OR=1.71,95％ CI:1.37 ～2.14,P＜0.001;rs2106696(A ＞T),OR=1.75,95％ CI:1.40 ～2.19,P＜0.001).携带危险等位基因个数越多,发生饮酒行为的可能性越高(趋势性P值＜0.001).SNP两两之间的交互效应没有统计学意义.结论 ALDH2基因多态性可影响中国男性饮酒行为.     

NAT2基因多态性与大肠癌遗传易感性关系

目的 探讨N-乙酰基转移酶2(NAT2)基因多态性与大肠癌遗传易感性关系.方法 运用以医院为基础的1:2配比病例对照研究和采用多重聚合酶链反应-连接酶检测(PCR-LDR)方法,对104例大肠癌病例和208例非大肠癌对照组人群NAT2基因上的3个tag SNPs位点进行基因型检测.结果 各位点在对照组中的基因型分布均符合Hardy-Weinberg平衡;rs1799931位点在病例和对照组中的基因型和等位基因频数分布差异均无统计学意义(均P＞0.05);病例组中rs1799929的T等位基因和rs1799930的A等位基因频率明显高于对照组,携带rs1799929的T等位基因和rs1799930的A等位基因是大肠癌发生的危险因素(OR=2.069、1.431,P＜0.01);NAT2慢速基因型在病例组的频率为43.3％(45例),对照组为26.0％(54例),差异有统计学意义(x2 =9.381,P＜0.01);携带NAT2慢速基因型的个体患大肠癌的风险是携带快速基因型个体的1.667倍(95％CI=1.213～2.291).结论 NAT2基因多态性与大肠癌的易感性有关,携带慢速基因型的人群患大肠癌的风险增加.     

IL-28B遗传多态性与乙型肝炎病毒感染后病毒自然清除和疾病进展关系的研究

目的 探讨IL-28B基因rS8099917位点(T＞G)单核苷酸多态性(SNP)与乙型肝炎病毒(HBV)感染后病毒自然清除和疾病进展的关系.方法 采用TaqMan SNP基因分型的方法对健康人群(n=144)、感染HBV后自愈人群(n=143)、HBV持续感染人群(肝硬化患者100例,肝癌患者99例)进行IL-28B基因rs8099917位点的多态性检测.结果 基因型和等位基因频率在各组及总体均符合Hardy-Weinberg遗传平衡.486例研究对象的基因型分布:TT型占89.3％、GT占10.5％、GG占0.2％;等位基因频率:T为94.5％,G为5.5％.该位点基因型和等位基因频率在各组间及各组内不同性别间的差异均无统计学意义(P＞0.05).以健康组为对照经性别和年龄因素调整后,TG/GG型在自愈组、肝硬化组和肝癌组的OR值(95％CI)分别为1.589(0.735 ～ 3.437)、1.351(0.550 ～ 3.316)和1.704(0.717～4.052).各临床特征在不同性别人群中与基因型分布的相关性分析显示,肝癌组中TG/GG型携带者r-GTⅡ阳性的风险显著高于TT型(x2=17.534,P=0.001),OR值(95％CI)为14.821(3.227～ 68.064),特别是在男性中该关联更为密切(x2=14.924,P=0.014),OR值(95％CI)为45.000(2.772～730.571).结论 IL-28B基因rs8099917位点与HBV感染后病毒自然清除可能不存在关联性,对慢性肝病进展的影响有待大样本深入分析.     

IL-4基因多态性与HBV遗传易感性的研究

目的 探讨白介素4(interleukin-4,IL-4)基因的单核苷酸多态性(single nucleotide polymorphisms,SNPs)与皖汉族人群乙型肝炎病毒(hepatitis B virus,HBV)遗传易感性的关系.方法 采用病例对照研究,501位慢性乙型肝炎(chronic hepatitis B,CHB)患者和301位急性自限性HBV感染者分别组成病例组和对照组;采用多重单碱基延伸SNP分型技术(Multiplex SNaPshot),检测两组人群的IL-4基因rs2227284G/T、rs2243283C/G和rs2243288A/G 3个标签SNPs位点的单核苷酸多态性,分析两组间的等位基因频率、单体型频率、基因型是否存在统计学差异.结果 IL-4基因3个多态位点的基因型频率在两组间差异均无统计学意义(均有P＞0.05);IL-4基因3个态位点最小等位基因及其频率在两组间差异均无统计学意义(均有P ＞0.05);4个单体型GCA、TCA、TCG及TGG两组间差异均无统计学意义(均有P＞0.05).结论 皖汉族人群中IL-4基因的3个tagSNPs(rs2227284,rs2243283和rs2243288)位点的基因多态性与HBV感染的基因易感性可能无相关性.     

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。     

MTHFR基因多态性及单体型与大剂量甲氨蝶呤化疗毒性反应的相关性研究

目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性及其单体型与急性淋巴细胞白血病患儿大剂量甲氨蝶呤(HDMTX)化疗毒性反应的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法对HDMTX化疗后出现毒性反应(n=61)和无毒性反应的患儿(n=36)MTHFR基因677C＞T、1298A＞C单核苷酸多态性(SNP)进行基因分型和单体型分析,并应用病例对照分析方法进行相关性研究.结果 MTHFR 677C＞T不同基因型在两组患儿中的分布频率差异无统计学意义(x2=4.609,P=0.100).1298A＞C不同基因型在两组患儿中的分布频率差异有统计学意义(x2=10.192,P=0.006),1298C等位基因(AC+CC基因型)携带者出现毒性反应的风险降低(OR=0.245,95％CI:0.099～ 0.607,P=0.002).677C＞T与1298A＞C存在着强连锁不平衡(D'=0.895),CC单体型携带者出现毒性反应的风险降低(OR=0.338,95％CI:0.155～ 0.738,P=0.005),而TA单体型携带者出现毒性反应的风险增加(OR=1.907,95％CI:1.045～3.482,P=0.035).结论 MTHFR 1298C等位基因及CC单体型可能是HDMTX毒性反应的保护因素,TA单体型可能是危险因素.     

趋化因子CXCL5启动子区-156G/C基因多态性与糖尿病肾病的相关性研究

目的 研究2型糖尿病患者CXCL5基因启动子-156位点G/C多态性分布,探讨该基因与糖尿病肾病的关系.方法 应用多聚酶链式反应限制性片段长度多态性(PCR-RFLP)技术检测210例2型糖尿病患者[根据24h尿蛋白排泄率(UAER)分为DM组和DN组]及171例健康对照者趋化因子CXCL5基因启动子-156位点G/C多态性.结果 CXCL5基因启动子-156位点G/C多态性在对照组和2型糖尿病组中的分布差异无统计学意义(P＞0.05);在DM和DN的患者中,CXCL5基因启动子-156位点GG基因频率与GC+CC基因频率相比差异有统计学意义(x2=51.99,P＜ 0.05).两组G与C等位基因频率差异有统计学意义(x2=54.72,P=0.000).结论 CXCL5基因启动子-156位点G/C与中国河北秦皇岛地区汉族2型糖尿病发病无关,但其中C基因可能是2型糖尿病患者进展为DN的遗传学风险.     

Investigation and Control of Anthrax Outbreak at the Human–Animal Interface,Bhutan, 2010

In 2010, we investigated anthrax outbreak in Bhutan. A total of 43 domestic animals died, and cutaneous anthrax developed in 9 persons, and 1 died. All affected persons had contact with the carcasses of infected animals. Comprehensive preparedness and response guidelines are needed to increase public awareness of anthrax in Bhutan.     

Risk for Travel-associated Legionnaires’ Disease,Europe, 2009

Legionnaires’ disease is underreported in Europe; notification rates differ substantially among countries. Approximately 20% of reported cases are travel-associated. To assess the risk for travel-associated Legionnaires’ disease (TALD) associated with travel patterns in European countries, we retrieved TALD surveillance data for 2009 from the European Surveillance System, and tourism denominator data from the Statistical Office of the European Union. Risk (number cases reported/number nights spent) was calculated by travel country. In 2009, the network reported 607 cases among European travelers, possibly associated with 825 accommodation sites in European Union countries. The overall risk associated with travel abroad was 0.3 cases/million nights. We observed an increasing trend in risk from northwestern to southeastern Europe; Greece had the highest risk (1.7). Our findings underscore the need for countries with high TALD risks to improve prevention and control of legionellosis; and for countries with high TALD risks, but low notification rates of Legionnaires’ disease to improve diagnostics and reporting.     

Travel-associated Diseases,Indian Ocean Islands, 1997–2010

Data collected by the GeoSentinel Surveillance Network for 1,415 ill travelers returning from Indian Ocean islands during 1997–2010 were analyzed. Malaria (from Comoros and Madagascar), acute nonparasitic diarrhea, and parasitoses were the most frequently diagnosed infectious diseases. An increase in arboviral diseases reflected the 2005 outbreak of chikungunya fever.     

Haemophilus ducreyi Associated with Skin Ulcers among Children,Solomon Islands

During a survey of yaws prevalence in the Solomon Islands, we collected samples from skin ulcers of 41 children. Using PCR, we identified Haemophilus ducreyi infection in 13 (32%) children. PCR-positive and PCR-negative ulcers were phenotypically indistinguishable. Emergence of H. ducreyi as a cause of nongenital ulcers may affect the World Health Organization’s yaws eradication program.     

Long-Term Survival Among Histological Subtypes in Advanced Epithelial Ovarian Cancer: Population-Based Study Using the Surveillance,Epidemiology, and End Results Database

BackgroundActual long-term survival rates for advanced epithelial ovarian cancer (EOC) are rarely reported.ObjectiveThis study aimed to assess the role of histological subtypes in predicting the prognosis among long-term survivors (≥5 years) of advanced EOC.MethodsWe performed a retrospective analysis of data among patients with stage III-IV EOC diagnosed from 2000 to 2014 using the Surveillance, Epidemiology, and End Results cancer data of the United States. We used the chi-square test, Kaplan–Meier analysis, and multivariate Cox proportional hazards model for the analyses.ResultsWe included 8050 patients in this study, including 6929 (86.1%), 743 (9.2%), 237 (2.9%), and 141 (1.8%) patients with serous, endometrioid, clear cell, and mucinous tumors, respectively. With a median follow-up of 91 months, the most common cause of death was primary ovarian cancer (80.3%), followed by other cancers (8.1%), other causes of death (7.3%), cardiac-related death (3.2%), and nonmalignant pulmonary disease (3.2%). Patients with the serous subtype were more likely to die from primary ovarian cancer, and patients with the mucinous subtype were more likely to die from other cancers and cardiac-related disease. Multivariate Cox analysis showed that patients with endometrioid (hazard ratio [HR] 0.534, P<.001), mucinous (HR 0.454, P<.001), and clear cell (HR 0.563, P<.001) subtypes showed better ovarian cancer-specific survival than those with the serous subtype. Similar results were found regarding overall survival. However, ovarian cancer–specific survival and overall survival were comparable among those with endometrioid, clear cell, and mucinous tumors.ConclusionsOvarian cancer remains the primary cause of death in long-term ovarian cancer survivors. Moreover, the probability of death was significantly different among those with different histological subtypes. It is important for clinicians to individualize the surveillance program for long-term ovarian cancer survivors.     

Dengue Virus Transmission by Blood Stem Cell Donor after Travel to Sri Lanka; Germany, 2013

Three days after donation of peripheral blood stem cells to a recipient with acute myeloblastic leukemia, dengue virus was detected in the donor, who had recently traveled to Sri Lanka. Transmission to the recipient, who died 9 days after transplant, was confirmed.     

Outbreak of Panton-Valentine Leukocidin–Associated Methicillin-Susceptible Staphylococcus aureus Infection in a Rugby Team,France, 2010–2011

Staphylococcus aureus strains that produce Panton-Valentine leukocidin are known to cause community infections. We describe an outbreak of skin abscesses caused by Panton-Valentine leukocidin–producing methicillin-susceptible S. aureus (clonal complex 121) in a professional rugby team in France during July 2010–February 2011. Eight team members were carriers; 7 had skin abscesses.     

大龄单身女性寻求生育力保存的伦理问题探析

近年来,在肿瘤和卵巢相关疾病发生率逐年增加、不少大龄单身女性渴望为自己购买一份“生殖保险”等社会及个人因素催化下,人类对于生育力保存的需求急剧增加,满足这一需求正在或将成为重大挑战。对于寻求进行生育力保存的大龄单身女性来说,在合适的年龄应用玻璃化冷冻技术将其卵母细胞冻存是目前可采用的最佳生育力保存手段。而单身女性卵子冷冻将面临来自伦理道德、社会乃至法律的巨大挑战。本文概述国内外大龄单身女性卵子冷冻的现状,并对其可能涉及的相关伦理问题及解决途径进行综述,以促进理性正视单身女性卵子冷冻问题。     

Reemergence and Autochthonous Transmission of Dengue Virus,Eastern China, 2014

In 2014, 20 dengue cases were reported in the cities of Wenzhou (5 cases) and Wuhan (15 cases), China, where dengue has rarely been reported. Dengue virus 1 was detected in 4 patients. Although most of these cases were likely imported, epidemiologic analysis provided evidence for autochthonous transmission.