PT  - JOURNAL ARTICLE
AU  - Pedro J. Romero Palacios
AU  - Juan Carlos Alavrez Merino
AU  - Carolina Cisneros Serrano
AU  - Pablo De Diego Fernández
AU  - Francisco J. González Barcala
AU  - José María Ignacio García
AU  - Antonio Pereira Vega
AU  - Luis Pérez de LLano
AU  - Isabel Urrutia Landa
TI  - Association of TGFB1 and IL4RnG2 gene polymorphisms with asthma
DP  - 2012 Sep 01
TA  - European Respiratory Journal
PG  - P471
VI  - 40
IP  - Suppl 56
4099  - http://erj.ersjournals.com/content/40/Suppl_56/P471.short
4100  - http://erj.ersjournals.com/content/40/Suppl_56/P471.full
SO  - Eur Respir J2012 Sep 01; 40
AB  - There are components of the asthma phenotype that appear to be strongly heritable. We have studied certain SNP variations in a set of genes related to the pathogenesis and evolution of asthma in patients with severe asthma and their immediate relatives, as well as in a control group of non-asthmatics patients.Aims of this study:1. To determine the existence of common genetic characteristics in individuals suffering from severe asthma.2. To study whether there are common genetic patterns in relatives of patients with severe asthma.We selected patients diagnosed of severe persistent asthma according to the criteria proposed by the ATS Consensus for Definition of Severe / Refractory Asthma and their fist-line relatives, symptomatic or non-symptomatic according to their responses to the European Community Respiratory Health Survey Questionnaire. A control group of non-asthmatic patients was also included.We obtained saliva samples to study 10 different SNPs located on different genes related to asthma (CHI3L1: rs4950928; ADRB2: rs1042713, rs1042714; DENND1B: rs1775456; ORMDL3: rs7216389; TMCO6: rs2569190; ADAM33: rs2280091; IL4: rs2243250; TGFB1: rs1800469; IL4R: rs1801275), by TaqMan SNP Genotyping Assay.Results: We analyzed samples from 150 patients diagnosed of severe persistent asthma, 49 controls, 69 asymptomatic relatives and 83 symptomatic relatives. We found significant differences (p <0.05) between the group of patients and relatives with respect to controls in two pairs of the alleles studied: TGFB1 rs1800469; IL4RnG2: rs1801275.Conclusions: We found a higher prevalence of TGFB1 rs1800469 (AA and AG) in patients with severe asthma and their relatives; and IL4RnG2: rs1801275 (AA) in asthmatics.