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

Menni, Cristina; Boffi, Lucia; Cesana, Francesca; Viviani Anselmi, Chiara; Nava, Stefano; Bertola, Francesca; Blasio, Anna M. Di; Roncarati, Roberta; Trimarco, Valentina; Marino, Marina; Trimarco, Bruno; Grassi, Guido; Giannattasio, Cristina; Mancia, Giuseppe

doi: 10.1097/HJH.0b013e3283581f7e
ORIGINAL PAPERS: Genetic aspects

Objectives: It is well known that among hypertensive patients, an increased left ventricular mass (LVM) is a powerful predictor of cardiovascular morbidity and mortality. However, the mechanisms underlying LVM in hypertension are not completely understood, as the absolute value of blood pressure and other risk factors associated do not predict alone a definite LVM progression. Recently, the 9p21 chromosomal region has been consistently associated with coronary heart disease.

Methods and results: We examined the association of 384 single nucleotide polymorphisms (SNPs) in the short arm of chromosome 9 with LVM in 821 hypertensive individuals from northern Italy. We identified a SNP (rs894379) in the intronic region of the centlein, centrosomal protein (CNTLN) gene on chromosome 9p22, whose minor allele G is associated with an increased LVM. We performed a follow-up validation analysis for the top SNP in 1038 hypertensive individuals from southern Italy. We then combined the results and found a nominal association for rs894379 (β = 2.46, P = 0.0026).

Conclusion: We describe a new variant associated with echocardiography LVM. This result, though it needs to be further investigated, may improve our understanding of the genetic determination of this prognostically relevant trait.

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aDepartment of Clinical Medicine and Prevention, San Gerardo Hospital, University of Milano-Bicocca, Milan, Italy

bBritish Heart Foundation, Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK

cUnit of Genetics and Cardiovascular Research Institute, Istituto Ricovero Cura Carattere Scientifico ‘Multimedica’, Sesto San Giovanni

dConsortium for Human Molecular Genetics, University of Milano-Bicocca

eIstituto Auxologico Italiano IRCCS

fMilan Unit, Biomedical and Genetic Research Institute (IRGB), National Research Council of Italy, Milan

gDepartment of Neuroscience

hDepartment of Clinical Medicine and Cardiovascular and Immunological Sciences, Federico II University Hospital, Naples

iCardiology IV, Cardiothoracovascular Department A. De Gasperis, Niguarda Hospital, Milan, Italy

jDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK

Correspondence to Professor Giuseppe Mancia, Department of Clinical Medicine and Prevention, San Gerardo Hospital, University of Milano-Bicocca, Via Pergolesi 33, 20052 Monza, Italy. Tel: +39 039 233 3357; fax: +39 039 322 274; e-mail:

Abbreviations: BP, blood pressure; BSA, body surface area; CNTLN, centlein centrosomal protein; ELN, elastin; ET-A, endothelin receptor type A; FC-ECG, cardiac frequency ECG; FDR, false discovery rate; GWAS, genome-wide association study; LVEDD, left ventricular end-diastolic diameter; LVM, left ventricular mass; LVMI, LVM index; LVH, left ventricular hypertrophy; MAF, minor allele frequency; MMP9, matrix metallopeptidase 9; SNP, single nucleotide polymorphism

Received 4 July, 2012

Accepted 13 July, 2012

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