TABLE 11

Association of the variations c.145A>G (p.Ser49Gly) and c.1165C>G (p.Arg389Gly) in the β1-adrenoceptor with heart failure

Data are an overview of candidate gene studies investigating ≥ 100 individuals.

Variant (Cohort)Number of SubjectsPopulation OriginVariant-Dependent EffectReference
c.145A>G (p.Ser49Gly)
 Risk of HF
  DCM177 ItalianSer > GlyForleo et al. (2004)
  CHF201 (141 controls)BrazilianSer = GlyBiolo et al. (2008)
  DCM375 (492 controls)SwedishSer = GlyMagnusson et al. (2005)
 Risk of MI
  CAD628 womenAmericanSer = GlyPacanowski et al. (2008b)
 HF-associated mortality
  DCM 184 (77 controls)SwedishSer > Gly carriersBörjesson et al. (2000)
  CHF201BrazilianSer = GlyBiolo et al. (2008)
  CHF227AmericanSer = GlyShin et al. (2007)
  DCM375 (492 controls)SwedishSer > Gly carriersMagnusson et al. (2005)
  CHF444FrenchSer = Glyde Groote et al. (2005)
c.1165C>G (p.Arg389Gly)
 Frequency in LV tachycardia
  DCM163 (157 controls)JapaneseArg > Gly carriersIwai et al. (2002)
 Exercise capacity
  ICM/DCM263AmericanArg > GlyWagoner et al. (2002)
 Frequency in HF/risk of HF
  DCM 163 (157 controls)JapaneseArg = GlyIwai et al. (2002)
  DCM 177ItalianArg = GlyForleo et al. (2004)
  CHF201 (141 controls)BrazilianArg = GlyBiolo et al. (2008)
  CHF 256 (230 controls)ItalianArg = GlyCovolo et al. (2004)
  CHF 260 (230 controls)ItalianArg = GlyMetra et al. (2006)
  DCM 375 (492 controls)SwedishArg = GlyMagnusson et al. (2005)
  DCM 426 (395 controls)FrenchArg = GlyTesson et al. (1999)
 Frequency in AMI/risk of MI
  AMI354 (354 controls)JapaneseArg > Gly carriersIwai et al. (2002)
  CAD628 womenAmericanArg < GlyPacanowski et al. (2008b)
 HF-associated mortality
  CHF201BrazilianArg > GlyBiolo et al. (2008)
  CHF227AmericanArg = GlyShin et al. (2007)
  CHF444FrenchArg = Glyde Groote et al. (2005)
  ACS601African AmericanArg = GlyCresci et al. (2012)
  ACS2072CaucasianArg = GlyCresci et al. (2012)
  CAD2922AmericanSer49Arg389 > Ser49Gly389/Gly49Arg389Pacanowski et al. (2008a)
  • ACS, acute coronary syndrome; AMI, acute myocardial infarction; CAD, coronary artery disease; CHF, chronic heart failure; DCM, dilated cardiomyopathy; HF, heart failure; HT, hypertensive; ICM, idiopathic cardiomyopathy; LV, left ventricular; MI, myocardial infarction; NT, normotensive.