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Variant on chromosome 9p is associated with left ventricular mass: results from two cohorts of essential

Cristina Menni1, Lucia Boffi, Francesca Cesana

  • 1Department of Clinical Medicine and Prevention, San Gerardo Hospital, University of Milano-Bicocca, Milan, Italy.

Journal of Hypertension
|September 4, 2012
PubMed

Insights

A newly identified genetic variant (rs894379) in the CNTLN gene on chromosome 9p22 is associated with increased left ventricular mass (LVM) in hypertensive patients. This finding may enhance understanding of genetic factors influencing LVM progression.

Area of Science:

  • Cardiovascular Genetics
  • Hypertension Research
  • Molecular Cardiology

Background:

  • Increased left ventricular mass (LVM) in hypertensive patients predicts cardiovascular events.
  • Mechanisms of LVM progression in hypertension are not fully understood.
  • The 9p21 chromosomal region is linked to coronary heart disease.

Purpose of the Study:

  • To investigate the association between genetic variants in chromosome 9 and LVM in hypertensive individuals.
  • To identify specific single nucleotide polymorphisms (SNPs) influencing LVM.
  • To explore the genetic determinants of LVM in hypertension.

Main Methods:

  • Genomic analysis of 384 SNPs in chromosome 9 in 821 hypertensive individuals.
  • Identification and validation of a significant SNP (rs894379) in the CNTLN gene.
  • Follow-up validation in an independent cohort of 1038 hypertensive individuals.

Main Results:

  • A specific SNP, rs894379, located in the CNTLN gene on chromosome 9p22, was associated with increased LVM.
  • The minor allele G of rs894379 showed a significant association with higher LVM.
  • Combined analysis confirmed a nominal association for rs894379 (β = 2.46, P = 0.0026).

Conclusions:

  • A novel genetic variant associated with echocardiography-measured LVM has been identified.
  • This finding contributes to understanding the genetic basis of LVM in hypertension.
  • Further investigation is warranted to elucidate the role of this variant in cardiovascular outcomes.
Abstract

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