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Identifications of Novel SNPs in Portuguese Essential Hypertensive Patients
Author(s) -
Pinho Maria Joao,
VazdaSilva Manuel,
SoaresdaSilva Patricio
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.874.14
Subject(s) - single nucleotide polymorphism , essential hypertension , snp , methylenetetrahydrofolate reductase , medicine , sanger sequencing , pathogenesis , allele , bioinformatics , genetics , genotype , biology , gene , dna sequencing , blood pressure
Essential hypertension (EH) is an etiological risk factor that poses a serious threat to human health. The aim of this study therefore was to investigate the correlation between the SNPs in hypertension related genes and Portuguese essential hypertensive subjects. Genomic DNA was isolated from PBMCs from a total of 79 hypertensive subjects (divided into: group 1, medicated HTA I and II; group 2, medicated HTA III and group 3, non‐hypertensive with cardiac disease) and 28 non‐hypertensive subjects. SNPs of interest were investigated using a PCR and Sanger sequencing based approach. The results of the analysis of the allele frequencies of MTHFR rs1801133 (C/T) and ATGR1 rs5185 (G/T), previously identified as hypertension‐associated SNPs, revealed that there were significant differences between goup1 and control. Six unidentified SNPs were found in SIK1. Among these novel variants the frequencies of allele C/T at chromosome position 44848234 lower in the hypertensive subjects (3.6% in group 1; 0% in group 2; vs 35.7% in control group), suggesting a protective role for this SNP. The results of this study partially confirm previous SNP profiling studies identifying SNPs that are associated to EH. However, we report several novel SNPs in hypertensive subjects these SNPs require further validation and functional analysis to evaluate whether they play a role in the pathogenesis of EH. Supported by FCT (PIC/IC/83204/2007)