Ballesta F
Departamento de Pediatría, IDIBAPS, Hospital Clínic, Facultad de Medicina, Universidad de Barcelona.
Allergol Immunopathol (Madr). 1998 May-Jun;26(3):83-6.
Complex diseases, including diseases of allergic origin (asthma, rhinitis, dermatitis), tend to cluster in families, suggesting the existence of a genetic predisposition that has been confirmed by the family and twin studies. However, it is difficult to establish a clear Mendelian pattern of inheritance and it is accepted that multiple genes exist which have an additive effect (polygeny) and interact with environmental factors (multifactorial polygenic mechanism) to cause not only the atopic constitution but also the pathology that derives from it. Advances in genetics and molecular biology, through linkage studies in chosen family nuclei and different population groups, are facilitating the location of chromosomal regions related with allergic pathology. The genes situated in these regions are considered candidate genes, and the genes themselves and the functions that they control are studied in relation to allergic disease. Although there are regions and candidate genes distributed throughout the genome, chromosomes 5, 6, 11, and 14 contain genes whose responsibility for susceptibility to atopy, asthma and bronchial hyperreactivity is accepted and whose polymorphisms could be risk factors. The study of these genes and many other candidate genes may clarify some etiopathogenic aspects of diseases of allergic origin and improve their prophylaxis and therapy.
包括过敏性疾病（哮喘、鼻炎、皮炎）在内的复杂疾病往往在家族中聚集，这表明存在遗传易感性，家族研究和双生子研究已证实了这一点。然而，很难确立明确的孟德尔遗传模式，人们认为存在多个具有累加效应的基因（多基因性），并与环境因素相互作用（多因素多基因机制），不仅导致特应性体质，还导致由此产生的病理状况。通过对选定的家族核心和不同人群进行连锁研究，遗传学和分子生物学的进展有助于确定与过敏性病理相关的染色体区域。位于这些区域的基因被视为候选基因，并对基因本身及其控制的功能与过敏性疾病的关系进行研究。尽管整个基因组中都有区域和候选基因，但5号、6号、11号和14号染色体包含的基因，其对特应性、哮喘和支气管高反应性易感性的作用已得到认可，其多态性可能是危险因素。对这些基因和许多其他候选基因的研究可能会阐明过敏性疾病的一些病因学方面，并改善其预防和治疗。
