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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Online
ISSN
1437-4331
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Volume 45, Issue 8 (Aug 2007)

Issues

Polymorphisms of the peroxisome proliferator-activated receptor-γ coactivator-1α gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy

Shuxia Wang
  • 1Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China and Hypertension Division, Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
    The first two authors contributed equally to this work.
/ Chunyan Fu
  • 2Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Hu Wang
  • 3Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Yi Shi
  • 4Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Xiqi Xu
  • 5Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Jingzhou Chen
  • 6Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Xiaodong Song
  • 7Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Kai Sun
  • 8Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Jianwei Wang
  • 9Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
/ Xiaohan Fan
  • 10Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China and Hypertension Division, Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
/ Hongjian Wang
  • 11Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China and Hypertension Division, Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
/ Xiaomin Yang
  • 12Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China and Hypertension Division, Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
/ Tujun Huan
  • 13Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China and Hypertension Division, Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
/ Rutai Hui
  • 14Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China and Hypertension Division, Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
Published Online: 2007-08-09 | DOI: https://doi.org/10.1515/CCLM.2007.189

Abstract

Background: The clinical phenotype of both hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH) induced by hypertension is heterogeneous. Genetic factors may contribute to this heterogeneity. Evidence is accumulating that the peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α) gene plays a role in cardiac hypertrophy. The aim of our study was to identify the association between PGC-1α gene polymorphisms and cardiac hypertrophy.

Methods: A total of 270 consecutive HCM patients and 2486 hypertensive patients, comprising 1180 with LVH and 1306 without LVH, as well as 894 healthy controls, were successfully investigated. Polymorphisms of the PGC-1α gene were genotyped by PCR-restriction fragment length polymorphism and confirmed by sequencing.

Results: The Ser482 allele (rs8192678 G>A and A>A) and CC genotype of Thr394Thr (rs2970847) conferred increased risk for HCM [odds ratio (OR) 1.52, 95% confidence interval (CI) 1.11–2.11; OR 1.49, 95% CI 1.15–1.98, respectively]. The maximum ventricular thickness was greater in HCM patients carrying the Ser482 risk allele than in carriers of the non-risk allele (20.7±4.1 vs. 19.1±4.3 mm, p<0.05) and for the CC Thr394Thr genotype (20.9±4.6 vs. 19.0±4.2 mm, p<0.05). No association was found between PGC-1α polymorphism and hypertension with or without LVH.

Conclusions: Our data indicate that variants of the PGC-1α gene are correlated with increased risk for HCM.

Clin Chem Lab Med 2007;45:962–7.

Keywords: hypertrophy; polymorphism; PGC-1α

About the article

Corresponding author: Rutai Hui, MD, PhD, Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of Ministry of Education, and Hypertension Division, Department of Cardiology, Cardiovascular Institute & FuWai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 167 Beilishi Road, Beijing 100037, PR China Phone: +86-10-68333902, Fax: +86-10-68331730,


Received: 2007-02-13

Accepted: 2007-04-18

Published Online: 2007-08-09

Published in Print: 2007-08-01


Citation Information: Clinical Chemical Laboratory Medicine, ISSN (Online) 14374331, ISSN (Print) 14346621, DOI: https://doi.org/10.1515/CCLM.2007.189. Export Citation

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