Skip to main content
Log in

The thrifty-genotype hypothesis and its implications for the study of complex genetic disorders in man

  • REVIEW
  • Published:
Journal of Molecular Medicine Aims and scope Submit manuscript

Abstract

 According to the ”thrifty-genotype” hypothesis proposed by Neel, diseases of civilization such as non-insulin-dependent diabetes mellitus and hypertension result from a discordance between certain features of our present-day environment and our genetic make-up which evolved to fit the life of Paleolithic humans. This concept implies that while ”affected” individuals harbor the ”original” ancestral version of the relevant genes, healthy or ”unaffected” individuals have picked up recent mutations leading to a ”loss of thriftiness” of these genes. Support for this concept now comes from recent studies of the angiotensinogen gene, where an ancestral variant of the gene (AGT 235T), also present in primates, has now been associated with hypertension whereas a neomorphic variant (AGT 235M) apparently reduces the risk of high blood pressure. The implications of these findings for our understanding and approach to the study of complex genetic diseases is discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Received: 9 July 1997 / Accepted: 5 November 1997

Rights and permissions

Reprints and permissions

About this article

Cite this article

Sharma, A. The thrifty-genotype hypothesis and its implications for the study of complex genetic disorders in man. J Mol Med 76, 568–571 (1998). https://doi.org/10.1007/s001090050251

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s001090050251

Navigation