Introduction: Genetic contribution to hypertension (HTA) is well-known, numerous genes being involved in this pathology, some of which have been highly re-ported.
Objective: The purpose of this study is to analyze novel loci linked to HTA in the studied cohort.
Methods: The study included 4831 individuals (1859 with HTA, 2983 healthy controls). Genotyping (chip-typing) was performed on 716.503 SNVs (Single Nu-cleotide Variants) at DeCode Genetics, Reykjavik. A total of 24.295.558 markers were generated by imputa-tion for each individual in the study. The results of the associative analysis were correlated with the presence of HTA in our lot using the Plink, SPSS Statistics and Microsoft Excel statistics softwares. The current study is a follow-up of 2 previous studies upon the genetic va-riants involved in the susceptibility for HTA, diabetes mellitus and obesity in the Romanian population.
Results: The top 50 markers (p-value) from the who-le chip were evisaged for our study (p-values of 10-7-10-5). Tissue-specific protein expression, gene functi-on and gene-gene interactions have been analyzed for assessing a possible biological explanation of the asso-ciation between these variants and HTA. Expression quantitative trait loci (eQTL) were assessed for variants in these locations for a better understanding of their involvement in HTA. Apart from these markers, two other variant clusters (p=10-4-10-3) on chromosomes 19 (19q12) and 20 (20p11.21) revealed statistical corre-lations with both HTA and obesity. These regions inclu-de a number of genes (CRNKL1, C19Orf12, CCDC51, C20Orf26, ZNF420, ZNF571), some of the identified SNVs having an intragenic location.
Conclusions: The present study found some important loci and clusters associated with HTA, which migh pro-vide insights into the genetic architecture of this patho-logy. The validity of these results for the Romanian po-pulation need to be confirmed by replication studies. Acknowledgements: The current research is part of the EU FP7 ProMark and ROMCAN projects.