Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction

Raffaele De Caterina, Philippa J. Talmud, Piera Angelica Merlini, Luisa Foco, Roberta Pastorino, David Altshuler, Francesco Mauri, Flora Peyvandi, Daniela Lina, Sekar Kathiresan, Luisa Bernardinelli, Diego Ardissino

Research output: Contribution to journalArticlepeer-review


Background: Epidemiological studies support the role for a strong genetic component in the occurrence of early-onset myocardial infarction (MI), although the specific genetic variants responsible for familial clustering remain largely unknown. Methods: The Italian study of early-onset MI is a nationwide case-control study involving 1864 case patients C [(rs662799), minor allele frequency 0.084 (95% confidence interval (CI) 0.07-0.09)] alone showed a statistically significant association with risk of early-onset MI (p=6.7×10-5), after Bonferroni correction, with a per C allele odds ratio of 1.44 (95% CI 1.23-1.69). In controls, APOA5-1131T>C was significantly associated with raised plasma triglyceride levels (p=0.001), compared with non-carriers, the per C allele increase being 11.4% (95% CI 4-19%), equivalent to 0.15mmol/L (95% CI 0.11-0.20mmol/L). In cases, the association with early MI risk remained statistically significant after adjustment for triglycerides (p=0.006). Conclusions: The APOA5-1131C allele, associated with higher fasting triglyceride levels, strongly affects the risk for early-onset MI, even after adjusting for triglycerides. This raises the possibility that APOA5-1131T>C may affect the risk of early MI over and above effects mediated by triglycerides.

Original languageEnglish
Pages (from-to)397-403
Number of pages7
Issue number2
Publication statusPublished - Feb 2011


  • APOA5-1131T>C gene variant
  • Association studies
  • Genetics
  • Myocardial infarction
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction'. Together they form a unique fingerprint.

Cite this