Genetic Biomarkers of Health-Related Quality of Life in Pediatric Asthma
ABSTRACT To determine the relationship between single nucleotide polymorphisms in candidate genes associated with multiple asthma phenotypes and health-related quality of life (HRQOL).
A cross-sectional study was conducted at a pediatric hospital in 275 school-aged children diagnosed with asthma and their caregivers. Genomic DNA was obtained from children, and caregivers completed a measure of their child's HRQOL. Analysis of variance was used to investigate the association between single nucleotide polymorphisms and HRQOL.
Children homozygous for the major variant at IL-4RA rs 1805010 had significantly better HRQOL than their counterparts. Significant associations with pulmonary function were not observed.
Genes associated with asthma phenotype can be associated with HRQOL at least partly independent of pulmonary function.
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ABSTRACT: Exposure to environmental tobacco smoke (ETS) during early childhood increases the risk of developing asthma. The intention of this study was to genotype a population of children from Coahuila state in Northern Mexico and to determine whether polymorphisms of the CYP1A1, GSTP1, and IL13 genes are associated with exposure to ETS and subsequently a higher risk for asthma. IL13 plays an important role in the development of allergic response, particularly those related with airway inflammation. CYP1A1 and GSTP1 are xenobiotic-metabolizing enzymes induced by repeated exposure to toxicants. Polymorphisms of these genes have been related with ETS exposure and increased risk for asthma. To assess the effect of IL13 (-1112 C>T and Arg110Gln), GSTP1 (Ile105Val), and CYP1A1 (Ile462Val) on asthma risk and ETS exposure, we recruited 201 unrelated children and classified them into four groups: (1) control without ETS exposure; (2) control with ETS exposure; (3) with asthma and with ETS exposure and (4) with asthma and without ETS exposure. No association among ETS exposure, asthma, and the studied polymorphisms was denoted by multivariate analysis of this population.03/2012; 33(2):226-32. DOI:10.1016/j.etap.2011.12.007
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ABSTRACT: PURPOSE: To describe the major findings in the literature regarding associations between biological and genetic factors and social functioning, paying special attention to: (1) heritability studies on social functioning and related concepts; (2) hypothesized biological pathways and genetic variants that could be involved in social functioning, and (3) the implications of these results for quality-of-life research. METHODS: A search of Web of Science and PubMed databases was conducted using combinations of the following keywords: genetics, twins, heritability, social functioning, social adjustment, social interaction, and social dysfunction. RESULTS: Variability in the definitions and measures of social functioning was extensive. Moderate to high heritability was reported for social functioning and related concepts, including prosocial behavior, loneliness, and extraversion. Disorders characterized by impairments in social functioning also show substantial heritability. Genetic variants hypothesized to be involved in social functioning are related to the network of brain structures and processes that are known to affect social cognition and behavior. CONCLUSIONS: Better knowledge and understanding about the impact of genetic factors on social functioning is needed to help us to attain a more comprehensive view of health-related quality-of-life (HRQOL) and will ultimately enhance our ability to identify those patients who are vulnerable to poor social functioning.Quality of Life Research 10/2012; 22(6). DOI:10.1007/s11136-012-0277-5 · 2.86 Impact Factor