دورية أكاديمية
Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study
| العنوان: | Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study |
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| المؤلفون: | Begum, Ferdouse, Ruczinski, Ingo, Hokanson, John E., Lutz, Sharon M., Parker, Margaret M., Cho, Michael H., Hetmanski, Jacqueline B., Scharpf, Robert B., Crapo, James D., Silverman, Edwin K., Beaty, Terri H. |
| بيانات النشر: | Public Library of Science |
| سنة النشر: | 2016 |
| المجموعة: | Harvard University: DASH - Digital Access to Scholarship at Harvard |
| مصطلحات موضوعية: | Biology and Life Sciences, Behavior, Habits, Smoking Habits, People and places, Population groupings, Ethnicities, African Americans, Computational Biology, Genome Analysis, Genome-Wide Association Studies, Genetics, Genomics, Human Genetics, Cell Biology, Chromosome Biology, Chromosomes, Mathematical and Statistical Techniques, Statistical Methods, Meta-Analysis, Physical Sciences, Mathematics, Statistics (Mathematics), Medicine and Health Sciences, Pulmonology, Chronic Obstructive Pulmonary Disease, Psychology, Addiction, Behavioral Addiction, Social Sciences |
| الوصف: | Many well-powered genome-wide association studies have identified genetic determinants of self-reported smoking behaviors and measures of nicotine dependence, but most have not considered the role of structural variants, such as copy number variation (CNVs), influencing these phenotypes. Here, we included 2,889 African American and 6,187 non-Hispanic White subjects from the COPDGene cohort (http://www.copdgene.orgTest) to carefully investigate the role of polymorphic CNVs across the genome on various measures of smoking behavior. We identified a CNV component (a hemizygous deletion) on chromosome 3p26.1 associated with two quantitative phenotypes related to smoking behavior among African Americans. This polymorphic hemizygous deletion is significantly associated with pack-years and cigarettes smoked per day among African American subjects in the COPDGene study. We sought evidence of replication in African Americans from the population based Atherosclerosis Risk in Communities (ARIC) study. While we observed similar CNV counts, the extent of exposure to cigarette smoking among ARIC subjects was quite different and the smaller sample size of heavy smokers in ARIC severely limited statistical power, so we were unable to replicate our findings from the COPDGene cohort. But meta-analyses of COPDGene and ARIC study subjects strengthened our association signal. However, a few linkage studies have reported suggestive linkage to the 3p26.1 region, and a few genome-wide association studies (GWAS) have reported markers in the gene (GRM7) nearest to this 3p26.1 area of polymorphic deletions are associated with measures of nicotine dependence among subjects of European ancestry. ; Version of Record |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1932-6203 |
| العلاقة: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053531/pdfTest/; PLoS ONE; Begum, F., I. Ruczinski, J. E. Hokanson, S. M. Lutz, M. M. Parker, M. H. Cho, J. B. Hetmanski, et al. 2016. “Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.” PLoS ONE 11 (10): e0164134. doi:10.1371/journal.pone.0164134. http://dx.doi.org/10.1371/journal.pone.0164134Test.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:29408162Test |
| DOI: | 10.1371/journal.pone.0164134 |
| الإتاحة: | https://doi.org/10.1371/journal.pone.0164134Test http://nrs.harvard.edu/urn-3:HUL.InstRepos:29408162Test |
| رقم الانضمام: | edsbas.A705FAA3 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 19326203 |
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| DOI: | 10.1371/journal.pone.0164134 |