title: Genome-wide association studies (GWAS) and their importance in asthma.
abstract: 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.
authors.affiliation: Departamento de Pediatría, Universidad de Salamanca, Spain; Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain. Electronic address: chonela@usal.es.
authors.forename: A
authors.initials: A
authors.lastname: García-Sánchez
authors.affiliation: Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain; Servicio de Bioquímica Clínica, Complejo Asistencial Universitario de Salamanca, Spain; Departamento de Medicina, Universidad de Salamanca, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Isidoro-García
authors.affiliation: Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain; Servicio de Bioquímica Clínica, Complejo Asistencial Universitario de Salamanca, Spain.
authors.forename: V
authors.initials: V
authors.lastname: García-Solaesa
authors.affiliation: Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain; Departamento de Microbiología y Genética, Universidad de Salamanca, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Sanz
authors.affiliation: Departamento de Pediatría, Universidad de Salamanca, Spain; Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain.
authors.forename: L
authors.initials: L
authors.lastname: Hernández-Hernández
authors.affiliation: Servicio de Bioquímica Clínica, Complejo Asistencial Universitario de Salamanca, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Padrón-Morales
authors.affiliation: Departamento de Pediatría, Universidad de Salamanca, Spain; Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain; Servicio de Pediatría, Hospital Universitario de Salamanca, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Lorente-Toledano
authors.affiliation: Departamento de Pediatría, Universidad de Salamanca, Spain; Grupo de Alergia, Instituto Biosanitario de Salamanca (IBSAL), Spain; Servicio de Alergia, Complejo Asistencial Universitario de Salamanca, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Dávila
mesh_terms: D000818:Animals; D001249:Asthma / Q000175:diagnosis / Q000235:genetics*; D015415:Biomarkers / Q000378:metabolism; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004527:Egg Proteins / Q000235:genetics; D044127:Epigenesis, Genetic; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D000094524:Gasdermins
chemical_list: D015415:Biomarkers; D004527:Egg Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C527978:GSDMB protein, human; D000094524:Gasdermins; C464399:ORMDL3 protein, human; C479482:ZPBP2 protein, human
keywords: Asthma; Epigenetics; Genome-wide association studies (GWAS); Genomics; Next generation sequencing