A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13
The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through la...
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| Veröffentlicht in: | Human molecular genetics 2012-02, Vol.21 (4), p.947-957 |
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| creator | Cho, Michael H. Castaldi, Peter J. Wan, Emily S. Siedlinski, Mateusz Hersh, Craig P. Demeo, Dawn L. Himes, Blanca E. Sylvia, Jody S. Klanderman, Barbara J. Ziniti, John P. Lange, Christoph Litonjua, Augusto A. Sparrow, David Regan, Elizabeth A. Make, Barry J. Hokanson, John E. Murray, Tanda Hetmanski, Jacqueline B. Pillai, Sreekumar G. Kong, Xiangyang Anderson, Wayne H. Tal-Singer, Ruth Lomas, David A. Coxson, Harvey O. Edwards, Lisa D. MacNee, William Vestbo, Jørgen Yates, Julie C. Agusti, Alvar Calverley, Peter M.A. Celli, Bartolome Crim, Courtney Rennard, Stephen Wouters, Emiel Bakke, Per Gulsvik, Amund Crapo, James D. Beaty, Terri H. Silverman, Edwin K. |
| description | The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10−9). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV1 (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior. |
| doi_str_mv | 10.1093/hmg/ddr524 |
| format | Article |
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To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10−9). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV1 (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddr524</identifier><identifier>PMID: 22080838</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Association Studies ; Chromosomes, Human, Pair 19 - genetics ; Follow-Up Studies ; Genetic Predisposition to Disease - genetics ; Genome-Wide Association Study ; Genotyping Techniques ; Humans ; Pulmonary Disease, Chronic Obstructive - genetics</subject><ispartof>Human molecular genetics, 2012-02, Vol.21 (4), p.947-957</ispartof><rights>The Author 2011. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c505t-a0df2c095266a63075a6863dafa9274509afaed86f901846ec5de354c44e774c3</citedby><cites>FETCH-LOGICAL-c505t-a0df2c095266a63075a6863dafa9274509afaed86f901846ec5de354c44e774c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,1578,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22080838$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cho, Michael H.</creatorcontrib><creatorcontrib>Castaldi, Peter J.</creatorcontrib><creatorcontrib>Wan, Emily S.</creatorcontrib><creatorcontrib>Siedlinski, Mateusz</creatorcontrib><creatorcontrib>Hersh, Craig P.</creatorcontrib><creatorcontrib>Demeo, Dawn L.</creatorcontrib><creatorcontrib>Himes, Blanca E.</creatorcontrib><creatorcontrib>Sylvia, Jody S.</creatorcontrib><creatorcontrib>Klanderman, Barbara J.</creatorcontrib><creatorcontrib>Ziniti, John P.</creatorcontrib><creatorcontrib>Lange, Christoph</creatorcontrib><creatorcontrib>Litonjua, Augusto A.</creatorcontrib><creatorcontrib>Sparrow, David</creatorcontrib><creatorcontrib>Regan, Elizabeth A.</creatorcontrib><creatorcontrib>Make, Barry J.</creatorcontrib><creatorcontrib>Hokanson, John E.</creatorcontrib><creatorcontrib>Murray, Tanda</creatorcontrib><creatorcontrib>Hetmanski, Jacqueline B.</creatorcontrib><creatorcontrib>Pillai, Sreekumar G.</creatorcontrib><creatorcontrib>Kong, Xiangyang</creatorcontrib><creatorcontrib>Anderson, Wayne H.</creatorcontrib><creatorcontrib>Tal-Singer, Ruth</creatorcontrib><creatorcontrib>Lomas, David A.</creatorcontrib><creatorcontrib>Coxson, Harvey O.</creatorcontrib><creatorcontrib>Edwards, Lisa D.</creatorcontrib><creatorcontrib>MacNee, William</creatorcontrib><creatorcontrib>Vestbo, Jørgen</creatorcontrib><creatorcontrib>Yates, Julie C.</creatorcontrib><creatorcontrib>Agusti, Alvar</creatorcontrib><creatorcontrib>Calverley, Peter M.A.</creatorcontrib><creatorcontrib>Celli, Bartolome</creatorcontrib><creatorcontrib>Crim, Courtney</creatorcontrib><creatorcontrib>Rennard, Stephen</creatorcontrib><creatorcontrib>Wouters, Emiel</creatorcontrib><creatorcontrib>Bakke, Per</creatorcontrib><creatorcontrib>Gulsvik, Amund</creatorcontrib><creatorcontrib>Crapo, James D.</creatorcontrib><creatorcontrib>Beaty, Terri H.</creatorcontrib><creatorcontrib>Silverman, Edwin K.</creatorcontrib><creatorcontrib>ECLIPSE Investigators</creatorcontrib><creatorcontrib>COPDGene Investigators</creatorcontrib><creatorcontrib>ICGN Investigators</creatorcontrib><creatorcontrib>on behalf of the ICGN, ECLIPSE, and COPDGene Investigators</creatorcontrib><title>A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10−9). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV1 (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior.</description><subject>Association Studies</subject><subject>Chromosomes, Human, Pair 19 - genetics</subject><subject>Follow-Up Studies</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genome-Wide Association Study</subject><subject>Genotyping Techniques</subject><subject>Humans</subject><subject>Pulmonary Disease, Chronic Obstructive - genetics</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1LxDAQhoMoun5c_AGSiwhCdfLRtLkIsn6CsB70KCEm6W6kbdamVfbfG9lV9CKeZmCePMzkRWifwAkByU5nzfTU2i6nfA2NCBeQUSjZOhqBFDwTEsQW2o7xBYAIzopNtEUTkJByhJ7O8dS1oXHZu7cO6xiD8br3ocWxH-wChwqPJ_cXOE3b3lfeRaxxHKJx894_-9r3C1wHM0ScnphZF5oQkw4T-UrYLtqodB3d3qruoMery4fxTXY3ub4dn99lJoe8zzTYihqQORVCCwZFrkUpmNWVlrTgOcjUOVuKSgIpuXAmt47l3HDuioIbtoPOlt758Nw4a9Kqna7VvPON7hYqaK9-T1o_U9PwphiVJSEkCY5Wgi68Di72qvHpxLrWrQtDVJKmb6RAin-QXIqkhUQeL0nThRg7V33vQ0B9BqdScGoZXIIPfl7wjX4llYDDJRCG-V-iD9n-ofY</recordid><startdate>20120215</startdate><enddate>20120215</enddate><creator>Cho, Michael H.</creator><creator>Castaldi, Peter J.</creator><creator>Wan, Emily S.</creator><creator>Siedlinski, Mateusz</creator><creator>Hersh, Craig P.</creator><creator>Demeo, Dawn L.</creator><creator>Himes, Blanca E.</creator><creator>Sylvia, Jody S.</creator><creator>Klanderman, Barbara J.</creator><creator>Ziniti, John P.</creator><creator>Lange, Christoph</creator><creator>Litonjua, Augusto A.</creator><creator>Sparrow, David</creator><creator>Regan, Elizabeth A.</creator><creator>Make, Barry J.</creator><creator>Hokanson, John E.</creator><creator>Murray, Tanda</creator><creator>Hetmanski, Jacqueline B.</creator><creator>Pillai, Sreekumar G.</creator><creator>Kong, Xiangyang</creator><creator>Anderson, Wayne H.</creator><creator>Tal-Singer, Ruth</creator><creator>Lomas, David A.</creator><creator>Coxson, Harvey O.</creator><creator>Edwards, Lisa D.</creator><creator>MacNee, William</creator><creator>Vestbo, Jørgen</creator><creator>Yates, Julie C.</creator><creator>Agusti, Alvar</creator><creator>Calverley, Peter M.A.</creator><creator>Celli, Bartolome</creator><creator>Crim, Courtney</creator><creator>Rennard, Stephen</creator><creator>Wouters, Emiel</creator><creator>Bakke, Per</creator><creator>Gulsvik, Amund</creator><creator>Crapo, James D.</creator><creator>Beaty, Terri H.</creator><creator>Silverman, Edwin K.</creator><general>Oxford University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20120215</creationdate><title>A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13</title><author>Cho, Michael H. ; Castaldi, Peter J. ; Wan, Emily S. ; Siedlinski, Mateusz ; Hersh, Craig P. ; Demeo, Dawn L. ; Himes, Blanca E. ; Sylvia, Jody S. ; Klanderman, Barbara J. ; Ziniti, John P. ; Lange, Christoph ; Litonjua, Augusto A. ; Sparrow, David ; Regan, Elizabeth A. ; Make, Barry J. ; Hokanson, John E. ; Murray, Tanda ; Hetmanski, Jacqueline B. ; Pillai, Sreekumar G. ; Kong, Xiangyang ; Anderson, Wayne H. ; Tal-Singer, Ruth ; Lomas, David A. ; Coxson, Harvey O. ; Edwards, Lisa D. ; MacNee, William ; Vestbo, Jørgen ; Yates, Julie C. ; Agusti, Alvar ; Calverley, Peter M.A. ; Celli, Bartolome ; Crim, Courtney ; Rennard, Stephen ; Wouters, Emiel ; Bakke, Per ; Gulsvik, Amund ; Crapo, James D. ; Beaty, Terri H. ; Silverman, Edwin K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c505t-a0df2c095266a63075a6863dafa9274509afaed86f901846ec5de354c44e774c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Association Studies</topic><topic>Chromosomes, Human, Pair 19 - 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To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10−9). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV1 (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>22080838</pmid><doi>10.1093/hmg/ddr524</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 2012-02, Vol.21 (4), p.947-957 |
| issn | 0964-6906 1460-2083 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3298111 |
| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Association Studies Chromosomes, Human, Pair 19 - genetics Follow-Up Studies Genetic Predisposition to Disease - genetics Genome-Wide Association Study Genotyping Techniques Humans Pulmonary Disease, Chronic Obstructive - genetics |
| title | A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13 |
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