A Genome-Wide Association Study of Chronic Obstructive Pulmonary Disease in Hispanics

Abstract

We have identified two novel loci (in or near the genes KLHL7/NUPL2 and DLG2) that may play a role in COPD pathogenesis in Hispanic populations.

Untitled

“…The most well-known candidate genes for COPD are CHRNA3/5, IREB2, HHIP, FAM13A and AGER. They were replicated and confirmed in multiple populations by GWAS studies [23][24][25]. None of them are targeted by treatments for COPD yet, and the mechanisms by which they alter COPD risk are still largely unknown.…”

A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos

“…We are aware of only two genome-wide association studies (GWAS) of lung function or COPD-related phenotypes that analyzed Hispanics separately (13,15). One identified a novel variant near MAN2B1 that was associated with percent emphysema on computed tomography (CT) (16) and the other identified two loci that approached genome wide statistical 4 significance for COPD (13).…”

“…We are aware of only two genome-wide association studies (GWAS) of lung function or COPD-related phenotypes that analyzed Hispanics separately (13,15). One identified a novel variant near MAN2B1 that was associated with percent emphysema on computed tomography (CT) (16) and the other identified two loci that approached genome wide statistical 4 significance for COPD (13). This literature contrasts with that among persons of European ancestry, in whom GWAS have identified multiple loci in genes for lung function and COPD (17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31) To improve our current understanding of the genetic architecture of lung functionrelated traits in Hispanics/Latinos, we performed a meta-analysis for FEV1, FEV1/FVC, airflow limitation and COPD among six Hispanic/Latino groups in the HCHS/SOL cohort (10,32).…”

“…We pursued replication of novel loci associated with FEV1 and FEV1/FVC in populations with Hispanics (13,(47)(48)(49)(50)(51), African-American (47,48), and European representation (17).…”

“…In the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), the largest and best characterized cohort of Hispanics/Latinos in the US, the prevalence of COPD varied substantially by Hispanic/Latino heritage with Puerto Ricans and Cubans having a much higher prevalence of COPD than other Hispanic/Latino groups (10). This difference in HCHS/SOL was explained by smoking and asthma history; however, other investigators have noted that Hispanic ethnicity is inversely associated with COPD-phenotypes compared to whites (11,12) and have hypothesized that genetic differences may lower risk of COPD in some Hispanic groups (11,13).…”