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Vol. 43. Issue 6.
Pages 601-608 (November - December 2015)
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Vol. 43. Issue 6.
Pages 601-608 (November - December 2015)
Series: Genetics in Allergy IV
DOI: 10.1016/j.aller.2014.07.004
Genome-wide association studies (GWAS) and their importance in asthma
A. García-Sáncheza,b,
Corresponding author

Corresponding author.
, M. Isidoro-Garcíab,c,d, V. García-Solaesab,c, C. Sanzb,e, L. Hernández-Hernándeza,b, J. Padrón-Moralesc, F. Lorente-Toledanoa,b,f, I. Dávilaa,b,g
a Departamento de Pediatría, Universidad de Salamanca, Spain
b Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain
c Servicio de Bioquímica Clínica, Complejo Asistencial Universitario de Salamanca, Spain
d Departamento de Medicina, Universidad de Salamanca, Spain
e Departamento de Microbiología y Genética, Universidad de Salamanca, Spain
f Servicio de Pediatría, Hospital Universitario de Salamanca, Spain
g Servicio de Alergia, Complejo Asistencial Universitario de Salamanca, Spain
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Tables (2)
Table 1. Description of genes by alphabetical order.
Table 2. Published genome-wide association studies of asthma and related phenotypes.
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Asthma is a complex disease determined by the interaction of different genes and environmental factors. The first genetic investigations in asthma were candidate gene association studies and linkage studies. In recent years research has focused on association studies that scan the entire genome without any prior conditioning hypothesis: the so-called genome-wide association studies (GWAS). The first GWAS was published in 2007, and described a new locus associated to asthma in chromosome 17q12-q21, involving the ORMDL3, GSDMB and ZPBP2 genes (a description of the genes named in the manuscript are listed in Table 1). None of these genes would have been selected in a classical genetic association study since it was not known they could be implicated in asthma. To date, a number of GWAS studies in asthma have been made, with the identification of about 1000 candidate genes. Coordination of the different research groups in international consortiums and the application of new technologies such as new generation sequencing will help discover new implicated genes and improve our understanding of the molecular mechanisms underlying the disease.

Genome-wide association studies (GWAS)
Next generation sequencing


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