Host genetics

宿主遗传学
  • 文章类型: Journal Article
    OBJECTIVE: Chemokines play a key role in immune regulation and response, and have been implicated in the pathogenesis of tuberculosis (TB). In this study, we investigated whether functional polymorphisms of the chemokines CCL5, CCL2, and CXCL8 are associated with pulmonary TB in a Moldavian population.
    METHODS: A total of 250 patients with TB and 184 healthy controls were screened for CCL5 -403G/A (rs2107538), CCL5 In1.1T/C (rs2280789), CCL2 -2518A/G (rs1024611), and CXCL8 -251A/T (rs4073) polymorphisms using standard polymerase chain reaction techniques.
    RESULTS: None of the analyzed variants were found to be significantly associated with overall pulmonary TB susceptibility. However, the CCL5 In1.1T/C polymorphism was significantly associated with early-onset TB in patients younger than 30 (dominant model, odds ratio [OR] = 3.01, p = 0.0046) or younger than 40 years (dominant model, OR = 2.17, p = 0.0099), and the conducted case-only analysis demonstrated that CCL5 In1.1T/C C-allele carriers exhibited an earlier TB onset than TT homozygotes (36.14 years vs. 40.13 years, p = 0.0065). In addition, nominal significance was observed for an association between TB incidence and both the eight paired genotypes in the overall patient cohort (0.017 < p < 0.05) and the CCL2 -2518A/G polymorphism among males (dominant model, OR = 0.55, p = 0.041; log-additive model, OR = 0.57, p = 0.018).
    CONCLUSIONS: The CCL5 In1.1T/C polymorphism may modulate pulmonary early-onset TB risk.
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  • 文章类型: Journal Article
    背景:脑炎在全球范围内持续导致大量的发病率和死亡率。诊断和管理方面的进展有限,在某种程度上,由于对案例定义缺乏共识,标准化诊断方法,和研究的优先事项。
    方法:2012年3月,国际脑炎协会,一个委员会始于2010年,成员遍布世界各地,在亚特兰大举行了一次会议,讨论脑炎的最新进展,并为未来的研究确定优先事项。
    结果:我们提出了一份共识文件,为成人和儿童疑似脑炎的评估提出了标准化的病例定义和诊断指南。此外,优先研究领域,包括宿主遗传学和选定的新兴感染,正在讨论。
    结论:我们预计这份文件,代表我们讨论的综合,并得到文献的支持,将作为临床医生评估疑似脑炎患者的实际帮助,并将确定关键领域和方法,以提高我们对脑炎的认识。
    BACKGROUND: Encephalitis continues to result in substantial morbidity and mortality worldwide. Advances in diagnosis and management have been limited, in part, by a lack of consensus on case definitions, standardized diagnostic approaches, and priorities for research.
    METHODS: In March 2012, the International Encephalitis Consortium, a committee begun in 2010 with members worldwide, held a meeting in Atlanta to discuss recent advances in encephalitis and to set priorities for future study.
    RESULTS: We present a consensus document that proposes a standardized case definition and diagnostic guidelines for evaluation of adults and children with suspected encephalitis. In addition, areas of research priority, including host genetics and selected emerging infections, are discussed.
    CONCLUSIONS: We anticipate that this document, representing a synthesis of our discussions and supported by literature, will serve as a practical aid to clinicians evaluating patients with suspected encephalitis and will identify key areas and approaches to advance our knowledge of encephalitis.
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