دورية أكاديمية
Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women
| العنوان: | Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women |
|---|---|
| المؤلفون: | Hardin, Megan, Cho, Michael, Sharma, Sunita, GLASS, Kimberly, Castaldi, Peter, McDonald, Merry-Lynn, Aschard, Hugues, Senter-Sylvia, Jody, Tantisira, Kelan, Weiss, Scott, Hersh, Craig, Morrow, Jarrett, Lomas, David, Agusti, Alvar, Bakke, Per, Gulsvik, Amund, O'Connor, George, Dupuis, Josée, Hokanson, John, Crapo, James, Beaty, Terri, Laird, Nan, Silverman, Edwin, DeMeo, Dawn, O’Connor, George |
| المساهمون: | Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Harvard School of Public Health |
| المصدر: | ISSN: 1044-1549. |
| بيانات النشر: | HAL CCSD American Thoracic Society |
| سنة النشر: | 2017 |
| المجموعة: | Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe) |
| مصطلحات موضوعية: | chronic obstructive pulmonary disease, genetics, genome-wide association study, growth and development, sex, MESH: Aged, MESH: Alleles, MESH: Lung, MESH: Male, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Pulmonary Disease, Chronic Obstructive, MESH: Risk Factors, MESH: Cadherins, MESH: Demography, MESH: Female, MESH: Gene Expression Regulation, MESH: Genetic Loci, MESH: Genetic Predisposition to Disease, MESH: Genome-Wide Association Study, MESH: Humans, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [STAT.ME]Statistics [stat]/Methodology [stat.ME], [STAT.AP]Statistics [stat]/Applications [stat.AP], [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM] |
| الوصف: | International audience ; Chronic obstructive pulmonary disease (COPD) is a complex disease with strong environmental and genetic influences and sexually dimorphic features. Although genetic risk factors for COPD have been identified, much of the heritability remains unexplained. Sex-based genetic association studies may uncover additional COPD genetic risk factors. We studied current and former smokers from COPD case-control cohorts (COPDGene non-Hispanic whites and African Americans, Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-Points, and Genetics of Chronic Obstructive Lung Disease). COPD was defined as post-bronchodilator forced expiratory volume in 1 second/forced vital capacity less than 0.70 and forced expiratory volume in 1 second percent predicted less than 80. Testing was performed across all cohorts and combined in a meta-analysis adjusted for age, pack-years, and genetic ancestry. We first performed genome-wide single-nucleotide polymorphism (SNP)-by-sex interaction testing on the outcome of COPD affection status. We performed sex-stratified association testing for SNPs with interaction P less than 10-6. We examined over 8 million SNPs in four populations, including 6,260 subjects with COPD (40.6% female) and 5,269 smoking control subjects (47.3% female). The SNP rs9615358 in the cadherin gene CELSR1 approached genome-wide significance for an interaction with sex (P = 1.24 × 10-7). In the sex-stratified meta-analysis, this SNP was associated with COPD among females (odds ratio, 1.37 [95% confidence interval, 1.25-1.49]; P = 3.32 × 10-7) but not males (odds ratio, 0.90 [95% confidence interval, 0.79-1.01]; P = 0.06). CELSR1 is involved in fetal lung development. In a human fetal lung tissue dataset, we observed greater CELSR1 expression in female compared with male samples. This SNP-by-sex genome-wide association analysis identified the fetal lung development gene, CELSR1, as a potential sex-specific risk factor for COPD. Identifying sex-specific genetic risk factors may ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/27854507; pasteur-03278723; https://hal-pasteur.archives-ouvertes.fr/pasteur-03278723Test; PUBMED: 27854507; PUBMEDCENTRAL: PMC5359539 |
| DOI: | 10.1165/rcmb.2016-0172OC |
| الإتاحة: | https://doi.org/10.1165/rcmb.2016-0172OCTest https://hal-pasteur.archives-ouvertes.fr/pasteur-03278723Test |
| رقم الانضمام: | edsbas.8249D947 |
| قاعدة البيانات: | BASE |
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Although genetic risk factors for COPD have been identified, much of the heritability remains unexplained. Sex-based genetic association studies may uncover additional COPD genetic risk factors. We studied current and former smokers from COPD case-control cohorts (COPDGene non-Hispanic whites and African Americans, Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-Points, and Genetics of Chronic Obstructive Lung Disease). COPD was defined as post-bronchodilator forced expiratory volume in 1 second/forced vital capacity less than 0.70 and forced expiratory volume in 1 second percent predicted less than 80. Testing was performed across all cohorts and combined in a meta-analysis adjusted for age, pack-years, and genetic ancestry. We first performed genome-wide single-nucleotide polymorphism (SNP)-by-sex interaction testing on the outcome of COPD affection status. We performed sex-stratified association testing for SNPs with interaction P less than 10-6. 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