A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study

Xueyan Zhao; Xin Geng; Vinodh Srinivasasainagendra; Ninad Chaudhary; Suzanne Judd; Virginia Wadley; Orlando M Gutiérrez; Henry Wang; Ethan M Lange; Leslie A Lange; Daniel Woo; Frederick W Unverzagt; Monika Safford; Mary Cushman; Nita Limdi; Rakale Quarells; Donna K Arnett; Marguerite R Irvin; Degui Zhi

doi:10.1186/s12920-018-0462-7

A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study

BMC Med Genomics. 2019 Jan 31;12(Suppl 1):26. doi: 10.1186/s12920-018-0462-7.

Authors

Xueyan Zhao¹, Xin Geng^{2

3}, Vinodh Srinivasasainagendra¹, Ninad Chaudhary⁴, Suzanne Judd¹, Virginia Wadley⁵, Orlando M Gutiérrez^{4

5}, Henry Wang⁶, Ethan M Lange⁷, Leslie A Lange⁷, Daniel Woo⁸, Frederick W Unverzagt⁹, Monika Safford¹⁰, Mary Cushman¹¹, Nita Limdi¹², Rakale Quarells¹³, Donna K Arnett¹⁴, Marguerite R Irvin¹⁵, Degui Zhi^{16

17}

Affiliations

¹ Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, 35233, USA.
² BGI-Shenzhen, Shenzhen, 518083, China.
³ School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
⁴ Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, 35233, USA.
⁵ Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 35233, USA.
⁶ Department of Emergency Medicine, University of Alabama at Birmingham, Birmingham, AL, 35233, USA.
⁷ Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA.
⁸ Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, OH, 45267, USA.
⁹ Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
¹⁰ Division of General Internal Medicine, Weill Cornell Medical College, Cornell University, New York, NY, 10065, USA.
¹¹ Department of Medicine and Pathology, Larner College of Medicine at the University of Vermont, Burlington, VT, 05405, USA.
¹² Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
¹³ Cardiovascular Research Institute, Department of Community Health and Preventive Medicine, Morehouse School of Medicine, Atlanta, GA, 30310, USA.
¹⁴ College of Public Health, University of Kentucky, Lexington, KY, 40506, USA.
¹⁵ Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, 35233, USA. irvinr@uab.edu.
¹⁶ School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA. Degui.zhi@uth.tmc.edu.
¹⁷ School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA. Degui.zhi@uth.tmc.edu.

Abstract

Background: Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains limited.

Results: In our study, associations between 4956 GWAS catalog reported SNPs and 67 traits were examined among 7726 African Americans from the REasons for Geographic and Racial Differences in Stroke (REGARDS) study, which is focused on identifying factors that increase stroke risk. The prevalent and incident phenotypes studied included inflammation, kidney traits, cardiovascular traits and cognition. Our results validated 29 known associations, of which eight associations were reported for the first time in African Americans.

Conclusion: Our cross-racial validation of GWAS findings provide additional evidence for the important roles of these loci in the disease process and may help identify genes especially important for future functional validation.

Keywords: African Americans; Cardiovascular disease; Genetics; PheWAS.

Publication types

Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Black or African American / statistics & numerical data*
Cohort Studies
Epidemiologic Studies*
Female
Genome-Wide Association Study*
Humans
Male
Middle Aged
Observational Studies as Topic*
Phenotype*
Polymorphism, Single Nucleotide*

Abstract

Publication types

MeSH terms

Grants and funding