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MBL基因型和侵入性肺炎球菌病的风险:一个病例控制研究
Suchismita Roy1, Kyle Knox, Shelley Segal
1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
在曼诺结合性莱克 (MBL) 基因中具有同卵性突变的个体对侵入性肺炎球菌病的易感性增加. 在某些人群中,这种遗传因素可能会显著增加严重感染的风险.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 传染性疾病 传染性疾病
背景情况:
- 肺炎链球菌导致全球显著的发病率和死亡率.
- 曼诺结合性莱克 (MBL) 对于天生的免疫力至关重要,它可以对病原体产生作用,并激活补充体.
- 遗传的MBL缺陷,特别是同卵性MBL编码变体,导致血清MBL水平非常低或不存在.
研究的目的:
- 调查MBL基因突变与侵袭性肺炎球菌病 (IPD) 易感性之间的关联.
- 为了确定特定的MBL基因型是否会在英国人口中增加IPD风险.
主要方法:
- 在英国牛津郡进行了一项两阶段病例控制研究.
- 在337名IPD患者和1032名对照人群中,对MBL编码体变异 (编码体52,54,57) 和促进物多态 (-221) 的基因型频率进行了比较.
- 参与者来自种族均的白人人口,S. pneumoniae从患者的无菌部位中分离出来.
主要成果:
- 对于MBL编码变体的同卵性与IPD风险增加有显著的关联 (OR2.59,初始分析中p=0.002;确认研究中p=0.046).
- 大约5%的北欧人和北美人是MBL同胞体.
- 无论是MBL异性还是促进物多态性都没有与IPD易感性产生关联.
结论:
- 对于MBL编码型变种的同胞菌面临着侵袭性肺炎球菌疾病的风险大幅增加.
- 这一发现突出了IPD易感性的特定遗传决定因素.
- 这些MBL基因型的患病率表明,这会对公共卫生产生重大影响,尤其是在发展中国家.
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