• Kristin M Burkart, Tamar Sofer, Stephanie J London, Ani Manichaikul, Fernando P Hartwig, Qi Yan, Soler ArtigasMaríaM8 Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, United Kingdom., 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, and R Graham Barr.
• 1 Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York.
• Am. J. Respir. Crit. Care Med. 2018 Jul 15; 198 (2): 208219208-219.

RationaleLung 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.ObjectivesPerform a GWAS of COPD phenotypes in Hispanic/Latino populations to identify loci not previously detected in European populations.MethodsGWAS 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 ResultsAmong 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 × 10-9) replicated. A rare variant (minor allele frequency = 0.002) in HAL (rs145174011) was associated with FEV1/FVC (P = 9.59 × 10-9) 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 × 10-8) approached statistical significance for replication in admixed populations of African ancestry, and a novel SNP for COPD in PDZD2 (rs7709630; P = 1.56 × 10-8) 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.ConclusionsWe 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.

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