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Related Experiment Video

Updated: May 30, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Large common deletions associate with mortality at old age.

Maris Kuningas1, Karol Estrada, Yi-Hsiang Hsu

  • 1Department of Epidemiology, Erasmus Medical Center, Rotterdam, CA 3000, The Netherlands. m.kuningas@erasmusmc.nl

Human Molecular Genetics
|August 13, 2011
PubMed
Summary

Copy-number variants (CNVs) influence mortality at old age. A higher burden of large common deletions and specific CNV regions (11p15.5, 14q21.3) are associated with increased mortality risk.

Related Experiment Videos

Last Updated: May 30, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Area of Science:

  • Genetics
  • Human Longevity
  • Population Health

Background:

  • Copy-number variants (CNVs) are a significant source of genetic variation.
  • While CNVs are linked to various diseases, their impact on human lifespan remains largely unexplored.
  • Understanding genetic factors influencing mortality is crucial for public health.

Purpose of the Study:

  • To investigate the association between copy-number variants (CNVs) and mortality in old age.
  • To identify specific CNVs or CNV regions that influence lifespan.
  • To differentiate the roles of rare and common CNVs in mortality risk.

Main Methods:

  • Genome-wide CNV data analyzed in three large cohorts: Rotterdam Study (RS1, RS2) and Framingham Heart Study (FHS).
  • Assessed the burden of rare (<1%) and common (>1%) CNVs for association with mortality.
  • Stratified analyses by CNV type and size, and examined individual common CNV regions (CNVRs).

Main Results:

  • The burden of common CNVs, not rare CNVs, significantly influences mortality.
  • A higher burden of large (≥ 500 kb) common deletions was associated with a 4% increase in mortality.
  • Two specific common CNV regions, 11p15.5 and 14q21.3, were significantly associated with higher mortality.

Conclusions:

  • The burden of large common deletions is a significant predictor of mortality.
  • Common CNVs in the 11p15.5 and 14q21.3 regions are linked to increased mortality risk.
  • These findings highlight the role of common CNVs in determining human lifespan.