Los H, Koppelman G H, Postma D S
Dept of Pulmonary rehabiliation, Beatrixoord Rehabilitation Centre, Haren, The Netherlands.
Eur Respir J. 1999 Nov;14(5):1210-27. doi: 10.1183/09031936.99.14512109.
Asthma is a complex genetic disorder in which the mode of inheritance is not known. Many segregation studies suggest that a major gene could be involved in asthma, but until now different genetic models have been obtained. Twin studies, too, have shown evidence for genetic influences in asthma, but have also revealed substantial evidence for environmental influences, in which nonshared environmental influences appeared to be important. Linkage, association studies and genome-wide screening suggest that multiple genes are involved in the pathogenesis of asthma. At least four regions of the human genome, chromosomes 5q31-33, 6p21.3, 11q13 and 12q14.3-24.1, contain genes consistently found to be associated with asthma and associated phenotypes. Not only genes associated with asthma but also genes which are involved in the development and outcome of asthma will be found in the future. This will probably provide greater insight into the identification of individuals at risk of asthma and early prevention and greater understanding for guiding therapeutic intervention in asthma. Exchange of information between researchers involved in the genetics of asthma is important because of mandatory agreement on phenotypes and analytical approaches. Genetics will contribute to the a better understanding and management of asthma in the future.
哮喘是一种复杂的遗传疾病,其遗传模式尚不清楚。许多分离研究表明,一个主要基因可能与哮喘有关,但到目前为止,已经获得了不同的遗传模型。双胞胎研究也显示了哮喘存在遗传影响的证据,但也揭示了大量环境影响的证据,其中非共享环境影响似乎很重要。连锁分析、关联研究和全基因组筛查表明,多个基因参与了哮喘的发病机制。人类基因组中至少有四个区域,即5号染色体长臂31-33区、6号染色体短臂21.3区、11号染色体长臂13区和12号染色体长臂14.3-24.1区,包含一直被发现与哮喘及相关表型有关的基因。未来不仅会发现与哮喘相关的基因,还会发现参与哮喘发生发展和转归的基因。这可能会为识别哮喘高危个体和早期预防提供更深入的见解,并为指导哮喘的治疗干预提供更深入的理解。由于在表型和分析方法上必须达成一致,参与哮喘遗传学研究的研究人员之间的信息交流很重要。遗传学将有助于未来更好地理解和管理哮喘。