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Molecular biology and genetics
Role of the C-344T aldosterone synthase gene variant in left ventricular mass and left ventricular structure-related phenotypes
  1. S Sookoian,
  2. T F Gianotti,
  3. C J Pirola
  1. Departamento de Genética y Biología Molecular de Enfermedades Complejas, Instituto de Investigaciones Medicas, A Lanari, Universidad de Buenos Aires, CONICET, Ciudad Autónoma de Buenos Aires, Argentina
  1. Dr Carlos J Pirola, Instituto de Investigaciones Medicas, A Lanari, Cardiología Molecular, Combatiente de Malvinas 3150, 1427-Ciudad Autonoma de Buenos Aires, Argentina; pirola.carlos{at}


Aim: We performed a systematic review of the literature by means of a meta-analysis to evaluate the influence of the aldosterone synthase gene (CYP11B2) C-344T polymorphism on left ventricular mass (LVM) and related phenotypes.

Design: From 485 reports, we included 14 studies about the association between the C-344T variant and left ventricular mass and left ventricular structure-related phenotypes, from which information about number of subjects in each category, outcomes data and genotyping performed with a validated molecular method could be extracted. Fixed and random effect models were used to pool data from individual studies, and the results in the abstract show the extreme genotype comparison, homozygous TT vs homozygous CC.

Results: From a total of 2157 subjects, we found no significant association between LVM and the C-344T variant (D: 0.049, 95% CI: 0.091 to 0.179, p = 0.462). Similarly, no significant association was found for interventricular septal-wall thickness (D: 0.027, 95% CI: −0.090 to 0.143, p = 0.654, n: 2105). However, homozygous TT hypertensive subjects had increased LVM (D: 0.251, 95% CI: 0.020 to 0.481, p = 0.04, n: 332). Lastly, in 10 homogeneous studies posterior wall thickness (PWT) was lower in homozygous CC individuals (D: 0.142, 95% CI: 0.016 to 0.268, p = 0.028, n = 1994).

Conclusion: Independently of hypertension, homozygous individuals for the –344T allele may have 2.4% higher PWT compared to homozygous subjects for the C-344 allele. Besides, homozygous hypertensive TT subjects show a 6.9% increase in LVM compared to CC homozygous subjects.

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  • Competing interests: None.

  • Funding: This study was supported by grants B119 (Universidad de Buenos Aires), PICT 25920 (Agencia Nacional de Promoción Científica y Tecnológica) and PIP 5195 (Consejo Nacional de Investigaciones Científicas y Técnicas). SS and CJP are members of Consejo Nacional de Investigaciones Científicas y Técnicas. SS and TFG are recipients of a Health Ministry Fellowship (Beca Ramón Carrillo-Arturo Oñativia Ministerio de Salud y Ambiente de la Nación, Convocatoria 2006).

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