Table 2

Summary of genotype–phenotype analyses in predominantly adult cohorts

Analysis performedNumber of studiesNumber of PatientsUnitPooled estimate (95% CI)p value
 Age-of-onset
  G+vs G−*175329MD−8.3 years (−9.9 to −6.6)<0.0001
  MYBPC3 vs MYH7*101709MD8.2 years (10.9 to 5.4)<0.0001
  Multiple vs single variants*4636MD−7.0 years (−10.6 to 3.3)0.0002
 Sudden cardiac arrest
  G+vs G−*52184OR1.4 (0.9 to 2.2)0.1
  MYBPC3 vs MYH7*6804OR0.9 (0.4 to 1.9)0.7
  Multiple vs single variants41778Conflicting results
 ICD implantation
  G+vs G−103288OR1.9 (1.5 to 2.4)<0.0001
  MYBPC3 vs MYH7*61379OR1.2 (0.8 to 1.8)0.34
  Multiple vs single variants2379No significant difference
 Heart failure
  G+vs G−, NYHA Class81916OR1 (0.7 to 1.5)0.81
  G+vs G−, cardiac transplant3637OR1.5 (0.4 to 5.2)0.54
  MYBPC3 vs MYH7, NYHA Class*4341OR1 (0.6 to 1.9)0.96
  Multiple vs single variants, NYHA Class, cardiac transplant and other cardiac outcomes3370Conflicting results
 Septal reduction therapy
  G+vs G−164728OR1.1 (0.9 to 1.2)0.46
  MYBPC3 vs MYH7122095OR1 (0.7 to 1.3)0.82
  Multiple vs single variants3543No significant difference
 Mortality
  G+vs G−72496No significant difference in 5 of 7 studies
  MYBPC3 vs MYH771654No significant difference in 6 of 7 studies
  Multiple vs single variants31580Conflicting results
  • *Additional studies not included in meta-analysis described in the text.

  • G+, genotype-positive; G−, genotype-negative; MD, mean difference.