A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos

Kristin M. Burkart; Tamar Sofer; Stephanie J. London; Ani Manichaikul; Fernando P. Hartwig; Qi Yan; María Soler Artigas; Lydiana Avila; Wei Chen; Sonia Davis Thomas; Alejandro A. Diaz; Ian P. Hall; Bernardo L. Horta; Robert C. Kaplan; Cathy C. Laurie; Ana M. Menezes; Jean V. Morrison; Elizabeth C. Oelsner; Deepa Rastogi; Stephen S. Rich; Manuel Soto-Quiros; Adrienne M. Stilp; Martin D. Tobin; Louise V. Wain; Juan C. Celedón; R. Graham Barr

doi:10.1164/rccm.201707-1493OC

A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos

Kristin M. Burkart, Tamar Sofer, Stephanie J. London, Ani Manichaikul, Fernando P. Hartwig, Qi Yan, María Soler Artigas, Lydiana Avila, Wei Chen, Sonia Davis Thomas, Alejandro A. Diaz, Ian P. Hall, Bernardo L. Horta, Robert C. Kaplan, Cathy C. Laurie, Ana M. Menezes, Jean V. Morrison, Elizabeth C. Oelsner, Deepa Rastogi, Stephen S. RichManuel Soto-Quiros, Adrienne M. Stilp, Martin D. Tobin, Louise V. Wain, Juan C. Celedón, R. Graham Barr

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

Abstract

Rationale: Lung function and chronic obstructive pulmonary disease (COPD) are heritable traits. Genome-wide association studies (GWAS) have identified numerous pulmonary function and COPD loci, primarily in cohorts of European ancestry. Objectives: Perform a GWAS of COPD phenotypes in Hispanic/Latino populations to identify loci not previously detected in European populations. Methods: GWAS of lung function and COPD in Hispanic/Latino participants from a population-based cohort. We performed replication studies of novel loci in independent studies. Measurements and Main Results: Among 11,822 Hispanic/Latino participants, we identified eight novel signals; three replicated in independent populations of European Ancestry. A novel locus for FEV₁ in ZSWIM7 (rs4791658; P = 4.99 3 10²⁹) replicated. A rare variant (minor allele frequency = 0.002) in HAL (rs145174011) was associated with FEV₁/FVC (P = 9.59 3 10²⁹) in a region previously identified for COPD-related phenotypes; it remained significant in conditional analyses but did not replicate. Admixture mapping identified a novel region, with a variant in AGMO (rs41331850), associated with Amerindian ancestry and FEV₁, which replicated. A novel locus for FEV₁ identified among ever smokers (rs291231; P = 1.92 3 10²⁸) approached statistical significance for replication in admixed populations of African ancestry, and a novel SNP for COPD in PDZD2 (rs7709630; P = 1.56 3 10²⁸) regionally replicated. In addition, loci previously identified for lung function in European samples were associated in Hispanic/Latino participants in the Hispanic Community Health Study/Study of Latinos at the genome-wide significance level. Conclusions: We identified novel signals for lung function and COPD in a Hispanic/Latino cohort. Including admixed populations when performing genetic studies may identify variants contributing to genetic etiologies of COPD.

Original language	English (US)
Pages (from-to)	208-219
Number of pages	12
Journal	American journal of respiratory and critical care medicine
Volume	198
Issue number	2
DOIs	https://doi.org/10.1164/rccm.201707-1493OC
State	Published - Jul 15 2018

Keywords

Chronic bstructive pulmonary disease
Genome-wide association study
Hispanic/Latino
Ingle-nucleotide polymorphisms
Lung function

ASJC Scopus subject areas

Pulmonary and Respiratory Medicine
Critical Care and Intensive Care Medicine

Access to Document

10.1164/rccm.201707-1493OC

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Burkart, K. M., Sofer, T., London, S. J., Manichaikul, A., Hartwig, F. P., Yan, Q., Artigas, M. S., Avila, L., Chen, W., Thomas, S. D., Diaz, A. A., Hall, I. P., Horta, B. L., Kaplan, R. C., Laurie, C. C., Menezes, A. M., Morrison, J. V., Oelsner, E. C., Rastogi, D., ... Graham Barr, R. (2018). A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos. American journal of respiratory and critical care medicine, 198(2), 208-219. https://doi.org/10.1164/rccm.201707-1493OC

A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos. / Burkart, Kristin M.; Sofer, Tamar; London, Stephanie J. et al.
In: American journal of respiratory and critical care medicine, Vol. 198, No. 2, 15.07.2018, p. 208-219.

Research output: Contribution to journal › Article › peer-review

Burkart, KM, Sofer, T, London, SJ, Manichaikul, A, Hartwig, FP, Yan, Q, Artigas, MS, Avila, L, Chen, W, Thomas, SD, Diaz, AA, Hall, IP, Horta, BL, Kaplan, RC, Laurie, CC, Menezes, AM, Morrison, JV, Oelsner, EC, Rastogi, D, Rich, SS, Soto-Quiros, M, Stilp, AM, Tobin, MD, Wain, LV, Celedón, JC & Graham Barr, R 2018, 'A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos', American journal of respiratory and critical care medicine, vol. 198, no. 2, pp. 208-219. https://doi.org/10.1164/rccm.201707-1493OC

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title = "A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos",

abstract = "Rationale: Lung function and chronic obstructive pulmonary disease (COPD) are heritable traits. Genome-wide association studies (GWAS) have identified numerous pulmonary function and COPD loci, primarily in cohorts of European ancestry. Objectives: Perform a GWAS of COPD phenotypes in Hispanic/Latino populations to identify loci not previously detected in European populations. Methods: GWAS of lung function and COPD in Hispanic/Latino participants from a population-based cohort. We performed replication studies of novel loci in independent studies. Measurements and Main Results: Among 11,822 Hispanic/Latino participants, we identified eight novel signals; three replicated in independent populations of European Ancestry. A novel locus for FEV1 in ZSWIM7 (rs4791658; P = 4.99 3 1029) replicated. A rare variant (minor allele frequency = 0.002) in HAL (rs145174011) was associated with FEV1/FVC (P = 9.59 3 1029) in a region previously identified for COPD-related phenotypes; it remained significant in conditional analyses but did not replicate. Admixture mapping identified a novel region, with a variant in AGMO (rs41331850), associated with Amerindian ancestry and FEV1, which replicated. A novel locus for FEV1 identified among ever smokers (rs291231; P = 1.92 3 1028) approached statistical significance for replication in admixed populations of African ancestry, and a novel SNP for COPD in PDZD2 (rs7709630; P = 1.56 3 1028) regionally replicated. In addition, loci previously identified for lung function in European samples were associated in Hispanic/Latino participants in the Hispanic Community Health Study/Study of Latinos at the genome-wide significance level. Conclusions: We identified novel signals for lung function and COPD in a Hispanic/Latino cohort. Including admixed populations when performing genetic studies may identify variants contributing to genetic etiologies of COPD.",

keywords = "Chronic bstructive pulmonary disease, Genome-wide association study, Hispanic/Latino, Ingle-nucleotide polymorphisms, Lung function",

author = "Burkart, {Kristin M.} and Tamar Sofer and London, {Stephanie J.} and Ani Manichaikul and Hartwig, {Fernando P.} and Qi Yan and Artigas, {Mar{\'i}a Soler} and Lydiana Avila and Wei Chen and Thomas, {Sonia Davis} and Diaz, {Alejandro A.} and Hall, {Ian P.} and Horta, {Bernardo L.} and Kaplan, {Robert C.} and Laurie, {Cathy C.} and Menezes, {Ana M.} and Morrison, {Jean V.} and Oelsner, {Elizabeth C.} and Deepa Rastogi and Rich, {Stephen S.} and Manuel Soto-Quiros and Stilp, {Adrienne M.} and Tobin, {Martin D.} and Wain, {Louise V.} and Celed{\'o}n, {Juan C.} and {Graham Barr}, R.",

note = "Publisher Copyright: Copyright {\textcopyright} 2018 by the American Thoracic Society.",

year = "2018",

month = jul,

day = "15",

doi = "10.1164/rccm.201707-1493OC",

language = "English (US)",

volume = "198",

pages = "208--219",

journal = "American journal of respiratory and critical care medicine",

issn = "1073-449X",

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T1 - A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos

AU - Burkart, Kristin M.

AU - Sofer, Tamar

AU - London, Stephanie J.

AU - Manichaikul, Ani

AU - Hartwig, Fernando P.

AU - Yan, Qi

AU - Artigas, María Soler

AU - Avila, Lydiana

AU - Chen, Wei

AU - Thomas, Sonia Davis

AU - Diaz, Alejandro A.

AU - Hall, Ian P.

AU - Horta, Bernardo L.

AU - Kaplan, Robert C.

AU - Laurie, Cathy C.

AU - Menezes, Ana M.

AU - Morrison, Jean V.

AU - Oelsner, Elizabeth C.

AU - Rastogi, Deepa

AU - Rich, Stephen S.

AU - Soto-Quiros, Manuel

AU - Stilp, Adrienne M.

AU - Tobin, Martin D.

AU - Wain, Louise V.

AU - Celedón, Juan C.

AU - Graham Barr, R.

PY - 2018/7/15

Y1 - 2018/7/15

N2 - Rationale: Lung function and chronic obstructive pulmonary disease (COPD) are heritable traits. Genome-wide association studies (GWAS) have identified numerous pulmonary function and COPD loci, primarily in cohorts of European ancestry. Objectives: Perform a GWAS of COPD phenotypes in Hispanic/Latino populations to identify loci not previously detected in European populations. Methods: GWAS of lung function and COPD in Hispanic/Latino participants from a population-based cohort. We performed replication studies of novel loci in independent studies. Measurements and Main Results: Among 11,822 Hispanic/Latino participants, we identified eight novel signals; three replicated in independent populations of European Ancestry. A novel locus for FEV1 in ZSWIM7 (rs4791658; P = 4.99 3 1029) replicated. A rare variant (minor allele frequency = 0.002) in HAL (rs145174011) was associated with FEV1/FVC (P = 9.59 3 1029) in a region previously identified for COPD-related phenotypes; it remained significant in conditional analyses but did not replicate. Admixture mapping identified a novel region, with a variant in AGMO (rs41331850), associated with Amerindian ancestry and FEV1, which replicated. A novel locus for FEV1 identified among ever smokers (rs291231; P = 1.92 3 1028) approached statistical significance for replication in admixed populations of African ancestry, and a novel SNP for COPD in PDZD2 (rs7709630; P = 1.56 3 1028) regionally replicated. In addition, loci previously identified for lung function in European samples were associated in Hispanic/Latino participants in the Hispanic Community Health Study/Study of Latinos at the genome-wide significance level. Conclusions: We identified novel signals for lung function and COPD in a Hispanic/Latino cohort. Including admixed populations when performing genetic studies may identify variants contributing to genetic etiologies of COPD.

AB - Rationale: Lung function and chronic obstructive pulmonary disease (COPD) are heritable traits. Genome-wide association studies (GWAS) have identified numerous pulmonary function and COPD loci, primarily in cohorts of European ancestry. Objectives: Perform a GWAS of COPD phenotypes in Hispanic/Latino populations to identify loci not previously detected in European populations. Methods: GWAS of lung function and COPD in Hispanic/Latino participants from a population-based cohort. We performed replication studies of novel loci in independent studies. Measurements and Main Results: Among 11,822 Hispanic/Latino participants, we identified eight novel signals; three replicated in independent populations of European Ancestry. A novel locus for FEV1 in ZSWIM7 (rs4791658; P = 4.99 3 1029) replicated. A rare variant (minor allele frequency = 0.002) in HAL (rs145174011) was associated with FEV1/FVC (P = 9.59 3 1029) in a region previously identified for COPD-related phenotypes; it remained significant in conditional analyses but did not replicate. Admixture mapping identified a novel region, with a variant in AGMO (rs41331850), associated with Amerindian ancestry and FEV1, which replicated. A novel locus for FEV1 identified among ever smokers (rs291231; P = 1.92 3 1028) approached statistical significance for replication in admixed populations of African ancestry, and a novel SNP for COPD in PDZD2 (rs7709630; P = 1.56 3 1028) regionally replicated. In addition, loci previously identified for lung function in European samples were associated in Hispanic/Latino participants in the Hispanic Community Health Study/Study of Latinos at the genome-wide significance level. Conclusions: We identified novel signals for lung function and COPD in a Hispanic/Latino cohort. Including admixed populations when performing genetic studies may identify variants contributing to genetic etiologies of COPD.

KW - Chronic bstructive pulmonary disease

KW - Genome-wide association study

KW - Hispanic/Latino

KW - Ingle-nucleotide polymorphisms

KW - Lung function

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A genome-wide association study in hispanics/latinos identifies novel signals for lung function the hispanic community health study/study of latinos

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