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Association between SNP Heterozygosity and Quantitative Traits in the Framingham Heart Study

  1. Didahally R. Govindaraju1,*,
  2. Martin G. Larson2,3,
  3. Xiaoyan Yin4,
  4. Emelia J. Benjamin2,5,
  5. Marepalli B. Rao6,
  6. Ramachandran S. Vasan2,5

Article first published online: 28 MAY 2009

DOI: 10.1111/j.1469-1809.2009.00514.x

Issue

Annals of Human Genetics

Annals of Human Genetics

Volume 73, Issue 4, pages 465–473, July 2009

Additional Information

How to Cite

Govindaraju, D. R., Larson, M. G., Yin, X., Benjamin, E. J., Rao, M. B. and Vasan, R. S. (2009), Association between SNP Heterozygosity and Quantitative Traits in the Framingham Heart Study. Annals of Human Genetics, 73: 465–473. doi: 10.1111/j.1469-1809.2009.00514.x

Author Information

  1. 1

    Department of Neurology, Boston University School of Medicine, Boston, MA 02118

  2. 2

    NHLBI's Framingham Heart Study, Framingham, MA 01702

  3. 3

    Boston University, Department of Mathematics and Statistics, Boston, MA 02215

  4. 4

    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118

  5. 5

    Department of Medicine, Boston University School of Medicine, Boston, MA 02118

  6. 6

    Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45267

* *Corresponding author: Diddahally R. Govindaraju, Boston University School of Medicine, Department of Neurology, Boston, MA 02118. Tel: (617) 638-5357; Fax: (617) 638-8086. E-mail: drgraju@bu.edu

Publication History

  1. Issue published online: 10 JUN 2009
  2. Article first published online: 28 MAY 2009
  3. Received: 24 August 2008Accepted: 16 February 2009

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Keywords:

  • Genome wide heterozygosity;
  • Single Nucleotide Polymorphisms;
  • balancing selection;
  • inbreeding;
  • association;
  • plastic traits;
  • dominance

Summary

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.

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