title: Polymorphisms of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy.
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-gamma coactivator-1alpha (PGC-1alpha) gene plays a role in cardiac hypertrophy. The aim of our study was to identify the association between PGC-1alpha 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-1alpha 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-1alpha polymorphism and hypertension with or without LVH.
  
  
  CONCLUSIONS
  Our data indicate that variants of the PGC-1alpha gene are correlated with increased risk for HCM.
authors.affiliation: Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of the Ministry of Education, Beijing, PR China.
authors.forename: Shuxia
authors.initials: S
authors.lastname: Wang
authors.forename: Chunyan
authors.initials: C
authors.lastname: Fu
authors.forename: Hu
authors.initials: H
authors.lastname: Wang
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.forename: Xiqi
authors.initials: X
authors.lastname: Xu
authors.forename: Jingzhou
authors.initials: J
authors.lastname: Chen
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Song
authors.forename: Kai
authors.initials: K
authors.lastname: Sun
authors.forename: Jianwei
authors.initials: J
authors.lastname: Wang
authors.forename: Xiaohan
authors.initials: X
authors.lastname: Fan
authors.forename: Hongjian
authors.initials: H
authors.lastname: Wang
authors.forename: Xiaomin
authors.initials: X
authors.lastname: Yang
authors.forename: Tujun
authors.initials: T
authors.lastname: Huan
authors.forename: Rutai
authors.initials: R
authors.lastname: Hui
mesh_terms: D000328:Adult; D000483:Alleles; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000235:genetics*; D017379:Hypertrophy, Left Ventricular / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D047495:PPAR gamma; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D011110:Polymorphism, Genetic / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D006360:Heat-Shock Proteins; D047495:PPAR gamma; C486497:PPARGC1A protein, human; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D014157:Transcription Factors