Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans

Genet Med. Jul-Aug 2003;5(4):322-7. doi: 10.1097/01.GIM.0000076971.55421.AD.


Purpose: To illustrate an approach of deriving haplotypes for genetic association studies, using the lipoprotein lipase (LPL) gene and coronary artery disease.

Methods: Six polymorphisms sufficient to distinguish the most common haplotypes in the 3' end of LPL were identified by genotyping 10 polymorphisms in a small pilot population. These were used to haplotype LPL in large family samples of Mexican-Americans and non-Hispanic Caucasians. A case-control association study was performed comparing Mexican-Americans with and without coronary artery disease.

Results: The two ethnic groups exhibited significant genetic differences. Among Mexican-Americans, homozygosity for LPL haplotype 1 was protective against coronary artery disease (OR = 0.50, 95% CI 0.27-0.91).

Conclusion: This study outlines the haplotype structure of the LPL gene, illustrates the utility of haplotype-based analysis in association studies, and demonstrates the importance of defining haplotype frequencies for different ethnic groups.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Coronary Artery Disease / ethnology*
  • Coronary Artery Disease / genetics*
  • European Continental Ancestry Group
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Hispanic Americans
  • Homozygote
  • Humans
  • Lipoprotein Lipase / genetics*
  • Logistic Models
  • Mexican Americans
  • Polymorphism, Genetic


  • Lipoprotein Lipase