GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans

Authors

Geetha Chittoor
Jack W. Kent Jr.
Marcio Almeida
Sobha Puppala
Vidya S. Farook
Shelley A. Cole
Karin Haack
Harald H. H. Goring, The University of Texas Rio Grande Valley
Jean W. MacCluer
Joanne E. Curran, The University of Texas Rio Grande Valley
Melanie A. Carless
Matthew P. Johnson, The University of Texas Rio Grande Valley
Eric K. Moses
Laura Almasy, The University of Texas Rio Grande Valley
Michael C. Mahaney, The University of Texas Rio Grande Valley
Donna M. LehmanFollow
Ravindranath Duggirala, The University of Texas Rio Grande Valley
Anthony G. Comuzzie
John Blangero, The University of Texas Rio Grande Valley
Venkata Saroja Voruganti

Document Type

Article

Publication Date

4-2016

Abstract

Background: The variation in serum uric acid concentrations is under significant genetic influence. Elevated SUA concentrations have been linked to increased risk for gout, kidney stones, chronic kidney disease, and cardiovascular disease whereas reduced serum uric acid concentrations have been linked to multiple sclerosis, Parkinson’s disease and Alzheimer’s disease. Previously, we identified a novel locus on chromosome 3p26 affecting serum uric acid concentrations in Mexican Americans from San Antonio Family Heart Study. As a follow up, we examined genome-wide single nucleotide polymorphism data in an extended cohort of 1281 Mexican Americans from multigenerational families of the San Antonio Family Heart Study and the San Antonio Family Diabetes/ Gallbladder Study. We used a linear regression-based joint linkage/association test under an additive model of allelic effect, while accounting for non-independence among family members via a kinship variance component.

Results:Univariate genetic analysis indicated serum uric acid concentrations to be significant heritable (h2 = 0.50 ± 0.05, p

Conclusion: Our results confirm the importance of the chromosome 3p26 locus and genetic variants in this region in the regulation of serum uric acid concentrations.

Comments

© 2016 Chittoor et al.

Recommended Citation

Chittoor, G., Kent, J. W., Almeida, M., Puppala, S., Farook, V. S., Cole, S. A., Haack, K., Göring, H. H. H., MacCluer, J. W., Curran, J. E., Carless, M. A., Johnson, M. P., Moses, E. K., Almasy, L., Mahaney, M. C., Lehman, D. M., Duggirala, R., Comuzzie, A. G., Blangero, J., & Voruganti, V. S. (2016). GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans. BMC Genomics, 17(1), 276. https://doi.org/10.1186/s12864-016-2594-5

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Publication Title

BMC Genomics

DOI

10.1186/s12864-016-2594-5

Academic Level

faculty

Mentor/PI Department

Office of Human Genetics