Hemminki K, Li X, Sundquist K, Sundquist J
Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Clin Exp Allergy. 2007 Sep;37(9):1320-5. doi: 10.1111/j.1365-2222.2007.02737.x.
Asthma is a common disabling condition, with known environmental and familial risk factors and with their assumed interactions. We wanted to carry out a family study on asthma to address gene-environment interactions at a population level.
We conducted a nation-wide study on familial risks for asthma. An asthma database was constructed by linking the Multigeneration Register on 0-72-year-old subjects to the Hospital Discharge Register for diagnosed asthma cases in Sweden from years 1987 to 2004. Standardized incidence ratios (SIRs) were calculated for affected singleton siblings, twins and spouses by comparing with those whose siblings or spouses had no asthma.
A total of 67 370 hospitalized cases and 5638 affected siblings were identified with a familial SIR of 3.70, which was independent of sex, diagnostic age and age differences between the siblings. The SIR for different-sex twins was 5.17 and for same-sex twins it was 13.38. There was a low correlation between spouses for asthma.
Asthma shows a higher familial risk than many common diseases. The higher difference in familial excess risk between singleton siblings and different-sex twins provides strong genetic epidemiological evidence for gene-environment interactions in asthma. The concept of gene-environment interactions needs to be accommodated in future aetiological studies on asthma. Data on environmental factors and family history are important for clinical risk estimation.
哮喘是一种常见的致残性疾病，存在已知的环境和家族风险因素及其假定的相互作用。我们希望开展一项关于哮喘的家族研究，以在人群水平上探讨基因 - 环境相互作用。
我们对哮喘的家族风险进行了一项全国性研究。通过将0至72岁受试者的多代登记册与瑞典1987年至2004年确诊哮喘病例的医院出院登记册相链接，构建了一个哮喘数据库。通过与兄弟姐妹或配偶无哮喘的人群进行比较，计算了受影响的单胎兄弟姐妹、双胞胎和配偶的标准化发病率（SIR）。
共识别出67370例住院病例和5638例受影响的兄弟姐妹，家族性SIR为3.70，这与性别、诊断年龄和兄弟姐妹之间的年龄差异无关。不同性别的双胞胎的SIR为5.17，同性双胞胎的SIR为13.38。配偶之间哮喘的相关性较低。
哮喘显示出比许多常见疾病更高的家族风险。单胎兄弟姐妹和不同性别的双胞胎之间家族超额风险的较大差异为哮喘中的基因 - 环境相互作用提供了强有力的遗传流行病学证据。基因 - 环境相互作用的概念需要在未来哮喘的病因学研究中加以考虑。环境因素和家族史的数据对于临床风险评估很重要。
