Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population

Gong Qing Shen, Shaoqi Rao, Nicola Martinelli, Lin Li, Oliviero Olivieri, Roberto Corrocher, Kalil G. Abdullah, Stanley L. Hazen, Jonathan Smith, John Barnard, Edward F. Plow, Domenico Girelli, Qing K. Wang

Research output: Contribution to journalArticlepeer-review

109 Scopus citations


Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America. Our aim was to determine whether these SNPs were associated with MI in a southern Europe/Mediterranean population. We employed a case-control association design involving 416 MI patients and 308 non-MI controls from Italy. Significant allelic association was identified between all four SNPs and MI. The association remained significant after adjusting for covariates for MI (P = 0.007-0.029). One risk haplotype (GGGG; P = 0.028) and one protective haplotype (AAAA; P = 0.047) were identified. Genotypic association analysis demonstrated that the SNPs conferred susceptibility to MI most likely in a dominant model (P = 0.0007-0.013). When the case cohort was divided into a group of MI patients with a family history (n = 248) and one group without it (n = 168), the positive, significant association was identified only in the group with the family history. These results indicate that chromosome 9p21 confers risk for development of MI in an Italian population.

Original languageEnglish (US)
Pages (from-to)144-150
Number of pages7
JournalJournal of Human Genetics
Issue number2
StatePublished - Feb 2008
Externally publishedYes


  • Association study
  • Chromosome 9p21
  • Coronary artery disease
  • Myocardial infarction
  • Single nucleotide polymorphisms (SNP)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population'. Together they form a unique fingerprint.

Cite this