Manuel Mattheisen

A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry

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A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. / Lutz, Sharon M; Cho, Michael H; Young, Kendra; Hersh, Craig P; Castaldi, Peter J; McDonald, Merry-Lynn; Regan, Elizabeth; Mattheisen, Manuel; DeMeo, Dawn L; Parker, Margaret; Foreman, Marilyn; Make, Barry J; Jensen, Robert L; Casaburi, Richard; Lomas, David A; Bhatt, Surya P; Bakke, Per; Gulsvik, Amund; Crapo, James D; Beaty, Terri H; Laird, Nan M; Lange, Christoph; Hokanson, John E; Silverman, Edwin K; ECLIPSE Investigators.

In: BMC Genetics, Vol. 16, 2015, p. 138.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Lutz, SM, Cho, MH, Young, K, Hersh, CP, Castaldi, PJ, McDonald, M-L, Regan, E, Mattheisen, M, DeMeo, DL, Parker, M, Foreman, M, Make, BJ, Jensen, RL, Casaburi, R, Lomas, DA, Bhatt, SP, Bakke, P, Gulsvik, A, Crapo, JD, Beaty, TH, Laird, NM, Lange, C, Hokanson, JE, Silverman, EK & ECLIPSE Investigators 2015, 'A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry', BMC Genetics, vol. 16, pp. 138. https://doi.org/10.1186/s12863-015-0299-4

APA

Lutz, S. M., Cho, M. H., Young, K., Hersh, C. P., Castaldi, P. J., McDonald, M-L., Regan, E., Mattheisen, M., DeMeo, D. L., Parker, M., Foreman, M., Make, B. J., Jensen, R. L., Casaburi, R., Lomas, D. A., Bhatt, S. P., Bakke, P., Gulsvik, A., Crapo, J. D., ... ECLIPSE Investigators (2015). A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. BMC Genetics, 16, 138. https://doi.org/10.1186/s12863-015-0299-4

CBE

Lutz SM, Cho MH, Young K, Hersh CP, Castaldi PJ, McDonald M-L, Regan E, Mattheisen M, DeMeo DL, Parker M, Foreman M, Make BJ, Jensen RL, Casaburi R, Lomas DA, Bhatt SP, Bakke P, Gulsvik A, Crapo JD, Beaty TH, Laird NM, Lange C, Hokanson JE, Silverman EK, ECLIPSE Investigators. 2015. A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. BMC Genetics. 16:138. https://doi.org/10.1186/s12863-015-0299-4

MLA

Vancouver

Author

Lutz, Sharon M ; Cho, Michael H ; Young, Kendra ; Hersh, Craig P ; Castaldi, Peter J ; McDonald, Merry-Lynn ; Regan, Elizabeth ; Mattheisen, Manuel ; DeMeo, Dawn L ; Parker, Margaret ; Foreman, Marilyn ; Make, Barry J ; Jensen, Robert L ; Casaburi, Richard ; Lomas, David A ; Bhatt, Surya P ; Bakke, Per ; Gulsvik, Amund ; Crapo, James D ; Beaty, Terri H ; Laird, Nan M ; Lange, Christoph ; Hokanson, John E ; Silverman, Edwin K ; ECLIPSE Investigators. / A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. In: BMC Genetics. 2015 ; Vol. 16. pp. 138.

Bibtex

@article{e9c404433f51428fbdd3136fe4361383,
title = "A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry",
abstract = "BACKGROUND: Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). We also conducted meta-analysis of FEV1 and FEV1/FVC GWAS in the COPDGene, ECLIPSE, and GenKOLS cohorts (total n = 13,532).RESULTS: Among NHW in the COPDGene cohort, both measures of pulmonary function were significantly associated with SNPs at the 15q25 locus [containing CHRNA3/5, AGPHD1, IREB2, CHRNB4] (lowest p-value = 2.17 × 10(-11)), and FEV1/FVC was associated with a genomic region on chromosome 4 [upstream of HHIP] (lowest p-value = 5.94 × 10(-10)); both regions have been previously associated with COPD. For the meta-analysis, in addition to confirming associations to the regions near CHRNA3/5 and HHIP, genome-wide significant associations were identified for FEV1 on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 9 [DBH] (p-value = 9.69 × 10(-9)) and 19 [CYP2A6/7] (p-value = 3.49 × 10(-8)) and for FEV1/FVC on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 4 [FAM13A] (p-value = 3.88 × 10(-12)), 11 [MMP3/12] (p-value = 3.29 × 10(-10)) and 14 [RIN3] (p-value = 5.64 × 10(-9)).CONCLUSIONS: In a large genome-wide association study of lung function in smokers, we found genome-wide significant associations at several previously described loci with lung function or COPD. We additionally identified a novel genome-wide significant locus with FEV1 on chromosome 9 [DBH] in a meta-analysis of three study populations.",
author = "Lutz, {Sharon M} and Cho, {Michael H} and Kendra Young and Hersh, {Craig P} and Castaldi, {Peter J} and Merry-Lynn McDonald and Elizabeth Regan and Manuel Mattheisen and DeMeo, {Dawn L} and Margaret Parker and Marilyn Foreman and Make, {Barry J} and Jensen, {Robert L} and Richard Casaburi and Lomas, {David A} and Bhatt, {Surya P} and Per Bakke and Amund Gulsvik and Crapo, {James D} and Beaty, {Terri H} and Laird, {Nan M} and Christoph Lange and Hokanson, {John E} and Silverman, {Edwin K} and {ECLIPSE Investigators}",
year = "2015",
doi = "10.1186/s12863-015-0299-4",
language = "English",
volume = "16",
pages = "138",
journal = "B M C Genetics",
issn = "1471-2156",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry

AU - Lutz, Sharon M

AU - Cho, Michael H

AU - Young, Kendra

AU - Hersh, Craig P

AU - Castaldi, Peter J

AU - McDonald, Merry-Lynn

AU - Regan, Elizabeth

AU - Mattheisen, Manuel

AU - DeMeo, Dawn L

AU - Parker, Margaret

AU - Foreman, Marilyn

AU - Make, Barry J

AU - Jensen, Robert L

AU - Casaburi, Richard

AU - Lomas, David A

AU - Bhatt, Surya P

AU - Bakke, Per

AU - Gulsvik, Amund

AU - Crapo, James D

AU - Beaty, Terri H

AU - Laird, Nan M

AU - Lange, Christoph

AU - Hokanson, John E

AU - Silverman, Edwin K

AU - ECLIPSE Investigators

PY - 2015

Y1 - 2015

N2 - BACKGROUND: Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). We also conducted meta-analysis of FEV1 and FEV1/FVC GWAS in the COPDGene, ECLIPSE, and GenKOLS cohorts (total n = 13,532).RESULTS: Among NHW in the COPDGene cohort, both measures of pulmonary function were significantly associated with SNPs at the 15q25 locus [containing CHRNA3/5, AGPHD1, IREB2, CHRNB4] (lowest p-value = 2.17 × 10(-11)), and FEV1/FVC was associated with a genomic region on chromosome 4 [upstream of HHIP] (lowest p-value = 5.94 × 10(-10)); both regions have been previously associated with COPD. For the meta-analysis, in addition to confirming associations to the regions near CHRNA3/5 and HHIP, genome-wide significant associations were identified for FEV1 on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 9 [DBH] (p-value = 9.69 × 10(-9)) and 19 [CYP2A6/7] (p-value = 3.49 × 10(-8)) and for FEV1/FVC on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 4 [FAM13A] (p-value = 3.88 × 10(-12)), 11 [MMP3/12] (p-value = 3.29 × 10(-10)) and 14 [RIN3] (p-value = 5.64 × 10(-9)).CONCLUSIONS: In a large genome-wide association study of lung function in smokers, we found genome-wide significant associations at several previously described loci with lung function or COPD. We additionally identified a novel genome-wide significant locus with FEV1 on chromosome 9 [DBH] in a meta-analysis of three study populations.

AB - BACKGROUND: Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). We also conducted meta-analysis of FEV1 and FEV1/FVC GWAS in the COPDGene, ECLIPSE, and GenKOLS cohorts (total n = 13,532).RESULTS: Among NHW in the COPDGene cohort, both measures of pulmonary function were significantly associated with SNPs at the 15q25 locus [containing CHRNA3/5, AGPHD1, IREB2, CHRNB4] (lowest p-value = 2.17 × 10(-11)), and FEV1/FVC was associated with a genomic region on chromosome 4 [upstream of HHIP] (lowest p-value = 5.94 × 10(-10)); both regions have been previously associated with COPD. For the meta-analysis, in addition to confirming associations to the regions near CHRNA3/5 and HHIP, genome-wide significant associations were identified for FEV1 on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 9 [DBH] (p-value = 9.69 × 10(-9)) and 19 [CYP2A6/7] (p-value = 3.49 × 10(-8)) and for FEV1/FVC on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 4 [FAM13A] (p-value = 3.88 × 10(-12)), 11 [MMP3/12] (p-value = 3.29 × 10(-10)) and 14 [RIN3] (p-value = 5.64 × 10(-9)).CONCLUSIONS: In a large genome-wide association study of lung function in smokers, we found genome-wide significant associations at several previously described loci with lung function or COPD. We additionally identified a novel genome-wide significant locus with FEV1 on chromosome 9 [DBH] in a meta-analysis of three study populations.

U2 - 10.1186/s12863-015-0299-4

DO - 10.1186/s12863-015-0299-4

M3 - Journal article

C2 - 26634245

VL - 16

SP - 138

JO - B M C Genetics

JF - B M C Genetics

SN - 1471-2156

ER -