Kauffmann F, Dizier M H, Annesi-Maesano I, Bousquet J, Charpin D, Demenais F, Ecochard D, Feingold J, Gormand F, Grimfeld A, Lathrop M, Matran R, Neukirch F, Paty E, Pison C, Scheinmann P, Vervloet D, Lockhart A
INSERM U472, 16, avenue PV Couturier, 94807 Villejuif Cedex, France.
Rev Epidemiol Sante Publique. 2001 Sep;49(4):343-56.
The EGEA study combines a case-control study and a family study to assess genetic and environmental risk factors and their interactions for asthma, bronchial hyperresponsiveness and atopy. Information is scanty regarding potential selection biases, in particular regarding familial ressemblance in epidemiological surveys of this kind.
Asthmatic probands (adult and paediatric) were recruited in chest clinics of six clinical centres. Controls were mostly population-based (electoral rolls) for adults and recruited in surgery departments for children.
The population examined includes 348 nuclear families ascertained by one asthmatic and 416 controls, totalling 1847 subjects (EGEA I) and an additional sample of 40 families ascertained by two asthmatic siblings (EGEA II). Potential biases for the various types of analyses have been studied. Quantification of the consequences of the greater participation of probands with a parental history of asthma shows it does not introduce a major bias in the estimates of familial resemblance. Cases and controls showed a good comparability regarding sex, age, area of residence and familial geographical origin, allowing proper associations studies for environmental and candidate genetic factors.
The case-control component of the study will allow to perform studies on environmental factors and association studies for various genetic polymorphisms. Using the family base collected, segregation and genetic linkage/association analyses with DNA markers may be performed.
EGEA研究结合了病例对照研究和家系研究，以评估哮喘、支气管高反应性和特应性的遗传和环境风险因素及其相互作用。关于潜在选择偏倚的信息很少，尤其是在这类流行病学调查中的家族相似性方面。
在六个临床中心的胸科诊所招募哮喘先证者（成人和儿童）。对照组大多基于人群（选民名单）选取成人，儿童则在外科部门招募。
所研究的人群包括由一名哮喘患者确定的348个核心家庭和416名对照，共计1847名受试者（EGEA I），以及由两名哮喘同胞确定的另外40个家庭的样本（EGEA II）。已研究了各类分析的潜在偏倚。对有哮喘家族史的先证者参与度更高所产生的后果进行量化，结果表明这在家族相似性估计中不会引入重大偏倚。病例组和对照组在性别、年龄、居住地区和家族地理来源方面具有良好的可比性，从而能够对环境因素和候选基因因素进行适当的关联研究。
该研究的病例对照部分将有助于开展环境因素研究以及各种基因多态性的关联研究。利用所收集的家系数据，可以进行与DNA标记的分离分析以及遗传连锁/关联分析。
