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Title: Assessing the Validity of Asthma Associations for Eight Candidate Genes and Age at Diagnosis Effects
Authors: Pino-Yanes, María
Corrales, Almudena
Cumplido, José
Poza, Paloma
Sánchez-Machín, Inmaculada
Sánchez-Palacios, Anselmo
Figueroa, Javier
Acosta-Fernández, Orlando
Buset, Nisa
García-Robaina, José Carlos
Hernández, Mariano
Villar, Jesús
Carrillo, Teresa 
Flores, Carlos
UNESCO Clasification: 32 Ciencias médicas
3201 Ciencias clínicas
320102 Genética clínica
Keywords: Asthma
Genome-wide association studies
Single nucleotide polymorphisms
Medical risk factors, et al
Issue Date: 2013
Journal: PLoS ONE 
Abstract: Background: Before the advent of genome-wide association studies (GWAS), ADAM33, ADRB2, CD14, MS4A2 (alias FCER1B), IL13, IL4, IL4R, and TNF constituted the most replicated non-HLA candidate genes with asthma and related traits. However, except for the IL13-IL4 region, none of these genes have been found in close proximity of genome-wide significant hits among GWAS for asthma or related traits. Here we aimed to assess the reproducibility of these asthma associations and to test if associations were more evident considering the effect of age at diagnosis. Methodology/Principal Findings: We systematically evaluated 286 common single nucleotide polymorphisms (SNPs) of these 8 genes in a sample of 1,865 unrelated Spanish individuals (606 asthmatics and 1,259 controls). We found that variants at MS4A2, IL4R and ADAM33 genes demonstrated varying association effects with the age at diagnosis of asthma, with 10 SNPs showing study-wise significance after the multiple comparison adjustment. In addition, in silico replication with GWAS data supported the association of IL4R. Conclusions/Significance: Our results support the important role of MS4A2, IL4R and ADAM33 genes in asthma and/or atopy susceptibility. However, additional studies in larger samples sets are needed to firmly implicate these genes in asthma susceptibility, and also to identify the causal variation underlying the associations found
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0073157
Source: PLoS ONE [e-1932-6203] , v. 8(9), e73157 (Septiembre 2013)
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