Association between SNP heterozygosity and quantitative traits in the framingham Heart Study

Didahally R. Govindaraju, Martin G. Larson, Xiaoyan Yin, Emelia J. Benjamin, Marepalli B. Rao, Ramachandran S. Vasan

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Associations between multilocus heterozygosity and fitness traits, also termed heterozygosity and fitness correlations (HFCs), have been reported in numerous organisms. These studies, in general, indicate a positive relationship between heterozygosity and fitness traits. We studied the association between genome-wide heterozygosity at 706 non-synonymous and synonymous SNPs and 19 quantitative traits, including morphological, biochemical and fitness traits in the Framingham Heart Study. Statistically significant association was found between heterozygosity and systolic and diastolic blood pressures as well as left ventricular diameter and wall thickness. These results suggest that heterozygosity may be associated with traits, such as blood pressure that closely track environmental variations. Balancing selection may be operating in the maintenance of heterozygosity and the major components of blood pressure and hypertension. Genome wide SNP heterozygosity may be used to understand the phenomenon of dominance as well as the evolutionary basis of many quantitative traits in humans.

Original languageEnglish (US)
Pages (from-to)465-473
Number of pages9
JournalAnnals of Human Genetics
Volume73
Issue number4
DOIs
StatePublished - 2009
Externally publishedYes

Keywords

  • Association
  • Balancing selection
  • Dominance
  • Genome wide heterozygosity
  • Inbreeding
  • Plastic traits
  • Single Nucleotide Polymorphisms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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