title: Introduction to genetics and genomics in asthma: genetics of asthma.
abstract: While asthma is a heterogeneous disease, a strong genetic basis has been firmly established. Rather than being a single disease entity, asthma consists of related, overlapping syndromes [Barnes (Proc Am Thor Soc 8:143-148, 2011)] including three general domains: variable airway obstruction, airway hyper-responsiveness, and airway inflammation with a considerable proportion, but not all, of asthma being IgE-mediated further adding to its heterogeneity. This chapter reviews the approaches to the elucidation of genetics of asthma from the early evidence of familial clustering to the current state of knowledge with genome-wide approaches. The conclusion is that research efforts have led to a tremendous repository of genetic determinants of asthma, most of which fall into the above phenotypic domains of the syndrome. We now look to future integrative approaches of genetics, genomics (Chap. 10), and epigenetics (Chap. 11) to better understand the causal mechanism through which, these genetic loci act in manifesting asthma.
authors.affiliation: Division of Allergy and Clinical Immunology, Johns Hopkins University School of Medicine, 5501 Hopkins Bayview Circle, 3B.79, Baltimore, MD, 21224, USA, rmathias@jhmi.edu.
authors.forename: Rasika Ann
authors.initials: RA
authors.lastname: Mathias
mesh_terms: D000402:Airway Obstruction / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D001249:Asthma / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D016535:Bronchial Hyperreactivity / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D005786:Gene Expression Regulation; D059647:Gene-Environment Interaction; D008040:Genetic Linkage; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D023281:Genomics; D006801:Humans; D007073:Immunoglobulin E / Q000235:genetics / Q000276:immunology; D007249:Inflammation / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D019655:Quantitative Trait, Heritable; D012720:Severity of Illness Index
chemical_list: D007073:Immunoglobulin E