Introduction to genetics and genomics in asthma: Genetics of asthma

Research output: Chapter in Book/Report/Conference proceedingChapter

20 Scopus citations


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 hyperresponsiveness, 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.

Original languageEnglish (US)
Title of host publicationHeterogeneity in Asthma
PublisherSpringer New York LLC
Number of pages31
ISBN (Print)9781461486022
StatePublished - 2014

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598


  • Asthma
  • Complex traits
  • Genetics
  • Genome-wide association study
  • Heritability
  • Linkage analysis
  • Linkage disequilibrium
  • Population stratification
  • Positional cloning

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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