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.
2Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
3Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
4Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
5Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
6Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
7Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
8Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
9Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China
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
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
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
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
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
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.
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