Calafell i Majó Francesc, González Candelas Fernando
Institut de Biologia Evolutiva, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra-Consejo Superior de Investigaciones Científicas, Doctor Aiguader 88, Barcelona.
Rev Esp Salud Publica. 2011 Jan-Feb;85(1):33-6. doi: 10.1590/S1135-57272011000100004.
The pandemic influenza (H1N1) 2009 raised a number of issues, of which we address the following: Why did between 25 and 30% of severe influenza cases show no obvious risk factor? We hypothesize that an element that can contribute to the answer are host genetic risk factors involved in poor disease progression. Several indications led us to this hypothesis: i) studies of familial aggregation in Iceland and Utah Mormons show some heritability of influenza mortality; ii) nearly 300 known human genes are necessary for the replication of the influenza virus, and iii) the most severe cases of influenza A (H1N1) 2009 showed a deregulation of the adaptive immune system. We are addressing this problem through a case-control design (hospitalized cases of influenza (H1N1) 2009 confirmed against outpatient cases, also confirmed for (H1N1) 2009), which will be genotyped for more than a million single nucleotide polymorphisms (SNPs) and copy number variations (CNVs).
2009年甲型H1N1流感大流行引发了诸多问题，我们在此探讨以下几点：为何25%至30%的重症流感病例未显示出明显的风险因素？我们推测，答案可能在于与疾病进展不佳相关的宿主遗传风险因素。有几个迹象促使我们提出这一假设：其一，冰岛和犹他州摩门教徒的家族聚集性研究表明流感死亡率存在一定遗传性；其二，流感病毒复制需要近300个人类已知基因；其三，2009年甲型H1N1流感最严重的病例显示出适应性免疫系统失调。我们正在通过病例对照设计（以确诊的2009年甲型H1N1流感住院病例对照门诊病例，门诊病例也确诊为2009年甲型H1N1流感）来解决这个问题，这些病例将针对超过一百万个单核苷酸多态性（SNP）和拷贝数变异（CNV）进行基因分型。
