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

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

Xueyan Zhao  1 , Xin Geng  2   3 , Vinodh Srinivasasainagendra  1 , Ninad Chaudhary  4 , Suzanne Judd  1 , Virginia Wadley  5 , Orlando M Gutiérrez  4   5 , Henry Wang  6 , Ethan M Lange  7 , Leslie A Lange  7 , Daniel Woo  8 , Frederick W Unverzagt  9 , Monika Safford  10 , Mary Cushman  11 , Nita Limdi  12 , Rakale Quarells  13 , Donna K Arnett  14 , Marguerite R Irvin  15 , Degui Zhi  16   17
Affiliations

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

Xueyan Zhao et al. BMC Med Genomics. .

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.

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Conflict of interest statement

Ethics approval and consent to participate

Our study has been approved by the appropriate internal review boards at the University of Texas Health Science Center at Houston and all other participating institutions, and it abides by the Declaration of Helsinki principles.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Heatmap shows the -log10P for association between SNPs with different traits. Shown in colors are the association P values of SNPs which are associated with first trait with P < 1.00E-7 and second trait with P < 0.05. The stars indicate the primary trait associated with the SNPs
See this image and copyright information in PMC

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