Novel genetic markers for structural coronary artery disease, myocardial infarction, and familial combined hyperlipidemia: Candidate and genome scans of functional SNPs

John P. Kane, Bradley E. Aouizerat, May M. Luke, Dov Shiffman, Olga Iakoubova, Dongming Liu, Charlie M. Rowland, Joseph J. Catanese, Diane U. Leong, Kit F. Lau, Judy Z. Louie, Carmen H. Tong, Linda B. McAllister, Lisa F. Dabby, Thomas A. Ports, Andrew D. Michaels, Christian Zellner, Clive R. Pullinger, Mary J. Malloy, James J. Devlin

Research output: Contribution to journalArticlepeer-review

Abstract

Association studies were conducted on a large number of single nucleotide polymorphisms (SNPs) in pooled screening for association with angiographically determined coronary artery disease (CAD) and myocardial infarction (MI), followed by individual genotyping of those showing association. Forty-seven SNPs showed association with severity of CAD in a replication study applying individual genotyping in 1250 patients. Case control analysis of 340 patients with MI and 300 controls revealed significant associations of three novel genes: an immune cell receptor on chromosome 20p (p=0.02), a zinc finger protein on chromosome 3 (p=0.04), and an unknown gene on chromosome 3 (p=0.01). Associations of polymorphisms in three genes with the phenotype of familial combined hyperlipidemia (FCH), Apo A-V, PPAR alpha and microsomal triglyceride transfer protein (MTP) were established, supporting a metabolic model for the disorder based on misdirection of fatty acid metabolism. Congruence of SNP associations in non-alcoholic steatohepatitis suggests overlap of this syndrome with FCH.

Original languageEnglish (US)
Pages (from-to)309-312
Number of pages4
JournalInternational Congress Series
Volume1262
Issue numberC
DOIs
StatePublished - May 1 2004

Keywords

  • Atherosclerosis
  • Combined hyperlipidemia
  • Coronary artery
  • Genetics

ASJC Scopus subject areas

  • Medicine(all)

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