Sex-specific effect of IL9 polymorphisms on lung function and polysensitization
| Autor: | Emmanuelle Bouzigon, Francine Kauffmann, Ayse Ulgen, M H Dizier, Hugues Aschard, M Lathrop, Frédéric Gormand, Florence Demenais, Eve Corda |
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| Přispěvatelé: | Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aschard H, Bouzigon E, je Pin, M Korobaeff, Neukirch F, Annesi-Maesano I, Le Moual N, R Nadif, MP Oryszczyn, V Siroux, Feingold J, Dizier MH, Corda E, E Bouzigon, Demenais F, I Gut, M Lathrop ., Ulgen A, MH Dizier, Gormand F, Lathrop M, Kauffmann F, F Demenais, groupe coopératif EGEA . Collaborateurs (17) Kauffmann F |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Male
Candidate gene MESH: Asthma Genetic Linkage Chromosomes Human Pair 22 Cell Count MESH: Respiratory Function Tests MESH: Genotype 0302 clinical medicine Pleiotropy Forced Expiratory Volume MESH: Child MESH: Chromosomes Human Pair 22 Child Lung Genetics (clinical) Genetics 0303 health sciences MESH: Polymorphism Single Nucleotide MESH: Immunoglobulin E Chromosome Mapping Phenotype 3. Good health Respiratory Function Tests medicine.anatomical_structure symbols Female Bronchial Hyperreactivity Chromosomes Human Pair 4 MESH: Chromosomes Human Pair 4 Adolescent Genotype Immunology Quantitative Trait Loci MESH: Genetic Linkage Quantitative trait locus Biology MESH: Forced Expiratory Volume MESH: Phenotype Polymorphism Single Nucleotide MESH: Interleukin-9 03 medical and health sciences symbols.namesake Sex Factors MESH: Sex Factors MESH: Eosinophils medicine Humans MESH: Lung MESH: Genome Human 030304 developmental biology Genetic association Asthma MESH: Adolescent MESH: Humans Genome Human MESH: Cell Count Chromosomes Human Pair 11 Interleukin-9 MESH: Bronchial Hyperreactivity Eosinophil Immunoglobulin E medicine.disease MESH: Male MESH: Quantitative Trait Loci Eosinophils Bonferroni correction 030228 respiratory system MESH: Genome-Wide Association Study [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie MESH: Microsatellite Repeats MESH: Chromosomes Human Pair 11 MESH: Chromosome Mapping MESH: Female Genome-Wide Association Study Microsatellite Repeats |
| Zdroj: | Genes and Immunity Genes and Immunity, 2009, 10 (6), pp.559-65. ⟨10.1038/gene.2009.46⟩ Genes and Immunity, Nature Publishing Group: Open Access Hybrid Model Option B, 2009, 10 (6), pp.559-65. ⟨10.1038/gene.2009.46⟩ |
| ISSN: | 1466-4879 1476-5470 |
| Popis: | International audience; Sex differences in asthma-associated phenotypes are well known but the genetic factors that may account for these differences have received little attention. This study aimed to characterize sex-specific and pleiotropic genetic factors underlying four quantitative phenotypes involved in the main asthma physiopathological pathways: immunoglobulin E levels, a measure of polysensitization (SPTQ), eosinophil counts and a measure of lung function FEV(1)/H(2) (forced expiratory volume in one second divided by height square). Sex-stratified univariate and bivariate linkage analyses were conducted in 295 families from the Epidemiological study on the Genetics and Environment of Asthma study. We found genome-wide significant evidence for a male-specific pleiotropic QTL (quantitative trait loci) on 5q31 (P=7 x 10(-9)) influencing both FEV(1)/H(2) and SPTQ and for a female-specific pleiotropic QTL on 11q23 underlying SPTQ and immunoglobulin E (P=2 x 10(-5)). Three other sex-specific regions of linkage were detected for eosinophil: 4q24 and 22q13 in females, and 3p25 in males. Further, bivariate association analysis of FEV(1)/H(2) and SPTQ with 5q31 candidate genes in males showed a significant association with two single-nucleotide polymorphisms within IL9 gene, rs2069885 and rs2069882 (P=0.02 and P=0.002, respectively, after Bonferroni's correction). This study underlies the importance of taking into account complex mechanisms, such as heterogeneity according to sex and pleiotropy to unravel the genes involved in asthma phenotypes. |
| Databáze: | OpenAIRE |
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