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Genetic Admixture and Survival in Diverse Populations with Pulmonary Arterial Hypertension. American journal of respiratory and critical care medicine Karnes, J. H., Wiener, H. W., Schwantes-An, T. H., Natarajan, B. n., Sweatt, A. J., Chaturvedi, A. n., Arora, A. n., Batai, K. n., Nair, V. n., Steiner, H. E., Giles, J. B., Yu, J. n., Hosseini, M. n., Pauciulo, M. W., Lutz, K. A., Coleman, A. W., Feldman, J. n., Vanderpool, R. n., Tang, H. n., Garcia, J. G., Yuan, J. X., Kittles, R. n., de Jesus Perez, V. n., Zamanian, R. T., Rischard, F. n., Tiwari, H. K., Nichols, W. C., Benza, R. L., Desai, A. A. 2020

Abstract

Limited information is available on racial/ethnic differences in pulmonary arterial hypertension (PAH).Determine effects of race/ethnicity and ancestry on mortality and disease outcomes in diverse patients with PAH.Group 1 PAH patients were included from two national registries with genome-wide data and two local cohorts and further incorporated in a global meta-analysis. Hazard ratios (HRs) were calculated for transplant-free all-cause mortality in Hispanics with Non-Hispanic whites (NHWs) as the reference group. Odds ratios (ORs) for inpatient-specific mortality in PAH patients were also calculated for race/ethnic groups from an additional National Inpatient Sample (NIS) dataset, not included in the meta-analysis.After covariate adjustment, self-reported Hispanics (n=290) exhibited significantly reduced mortality versus NHWs (n=1970) after global meta-analysis (HR 0.60[0.41-0.87], p=0.008). Although not significant, increasing Native American genetic ancestry appeared to account for part of the observed mortality benefit (HR 0.48[0.23-1.01], p=0.053) in the two national registries. Finally, in the NIS, an inpatient mortality benefit was also observed for Hispanics (n=1524) versus NHWs (n=8829; OR 0.65[0.50-0.84], p=0.001). An inpatient mortality benefit was observed for Native Americans (n=185; OR 0.38[0.15-0.93], p=0.034).This study demonstrates a reproducible survival benefit for Hispanic Group 1 PAH patients in multiple clinical settings. Our results implicate contributions of genetic ancestry to differential survival in PAH.

View details for DOI 10.1164/rccm.201907-1447OC

View details for PubMedID 31916850