(CCSP002) AN ASSOCIATION BETWEEN INTRONIC VARIANT OF ZINC TRANSPORTER 7 OF SLC30A7 GENE AND SALT-SENSITIVE HYPERTENSION IN CAUCASIAN POPULATION

Background: Hypertension is a major risk factor for cardiovascular diseases and is influenced by both
environmental and genetic factors. A large body of evidence supports the contribution of
Zinc transporter 7 of the SLC30A7 gene (solute carrier family 30 member 7) located on chromosome 1 and its association with the early onset of essential hypertension. The present study aims (i) to replicate and validate the previously reported associations between the intronic variant rs17123521 of the SLC30A7 gene and hypertension on a sample of precisely defined early-onset hypertensive cases and normotensive controls.

METHODS AND RESULTS: The association was evaluated in 568 genotyped Caucasian subjects (n=300 and n=268 controls) recruited and clinically characterized at the Hypertension clinic at the University of Ottawa Heart Institute, and the Institute of Cardiology in Warsaw, Poland. Blood pressure was measured by 24hr ambulatory blood pressure monitoring. We used the free open-source toolset PLINK v1.9 to perform the analysis. Our study reveals a statistically strong association between rs17123521 (p= 6.525e-07) and essential hypertension after stringent multiple corrections. Further, logistic regression modeling showed a significant dominant model effect in individuals carrying rare allele ‘C’ for rs17123521 and blood potassium (Odds Ratio -5.3, p-5.67-07), Blood sodium (Odds Ratio- 4.9, p 1.984e-06 ), Urinary potassium (Odds Ratio-5.1,p- 1.249e-06 ), urinary sodium (Odds Ratio 4.7, p- 4.263e-05 ), UrineNaper 10 umolcreat(Odds Ratio- 5.1, p- 1.266e-06 ).

Conclusion: Findings from the current study suggest the existence of a strong association between intronic variant rs17123521 and early onset essential hypertension. Further association and molecular studies are required to clarify the underlying mechanism of action and the role of rs17123521 in predisposition to hypertension.