TY - CHAP
T1 - Introduction to genetics and genomics in asthma
T2 - Genetics of asthma
AU - Mathias, Rasika Ann
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - Asthma
KW - Complex traits
KW - Genetics
KW - Genome-wide association study
KW - Heritability
KW - Linkage analysis
KW - Linkage disequilibrium
KW - Population stratification
KW - Positional cloning
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U2 - 10.1007/978-1-4614-8603-9_9
DO - 10.1007/978-1-4614-8603-9_9
M3 - Chapter
C2 - 24162907
AN - SCOPUS:84934442667
SN - 9781461486022
T3 - Advances in Experimental Medicine and Biology
SP - 125
EP - 155
BT - Heterogeneity in Asthma
PB - Springer New York LLC
ER -