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Association of polymorphisms in the aldosterone-regulated sodium reabsorption pathway with blood pressure among Hispanics
Association of polymorphisms in the aldosterone-regulated sodium reabsorption pathway with blood pressure among Hispanics
- Source :
- BMC Proceedings
- Publisher :
- Springer Nature
-
Abstract
- Background Whereas genome-wide association study (GWAS) has proven to be an important tool for discovery of variants influencing many human diseases and traits, unfortunately its performance has not been much of all-around success for some complex conditions, for example, hypertension. Because some of the existing effective pharmacotherapeutic agents act by targeting known biological pathways, pathway-based analytical approaches could lead to more success in discovery of disease-associated variants. The objective of the present study was to identify functional variants associated with blood pressure in the aldosterone-regulated sodium reabsorption pathway using the simulated and real blood pressure phenotypes provided for Genetic Analysis Workshop 19. Methods The present analysis included 1942 samples with exome sequencing data and for whom blood pressure phenotypes were available. Because only odd-numbered autosomes were available, we restricted analysis to 127 quality-controlled single-nucleotide polymorphisms from the aldosterone-regulated sodium reabsorption pathway. We performed pathway-based association analysis using appropriate regression models for single variant, haplotype and epistasis association analyses. To account for multiple comparisons, statistical significance was empirically derived by permutation procedure and Bonferroni correction. Results The topmost pathway-based association signals were observed in PRKCA gene for diastolic blood pressure (DBP), systolic blood pressure (SBP), and mean arterial pressure (MAP) in both real and simulated data. The associations remained significant (P
- Subjects :
- 0301 basic medicine
business.industry
Epistasis and functional genomics
Genome-wide association study
General Medicine
Computational biology
030204 cardiovascular system & hematology
Pharmacology
General Biochemistry, Genetics and Molecular Biology
Biological pathway
03 medical and health sciences
symbols.namesake
Proceedings
030104 developmental biology
0302 clinical medicine
Blood pressure
Bonferroni correction
Multiple comparisons problem
symbols
Epistasis
Medicine
business
Genetic association
Subjects
Details
- Language :
- English
- ISSN :
- 17536561
- Volume :
- 10
- Issue :
- S7
- Database :
- OpenAIRE
- Journal :
- BMC Proceedings
- Accession number :
- edsair.doi.dedup.....c959f15fda3327980b81a34f3370017a
- Full Text :
- https://doi.org/10.1186/s12919-016-0054-5