Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters

Eur J Hum Genet. 2011 Jan;19(1):108-11. doi: 10.1038/ejhg.2010.139. Epub 2010 Aug 18.


Mass screening for cervical cancer precursors has decreased the incidence of cervical cancer in several countries, including the Netherlands. Persistent infections of certain types of human papillomavirus are strongly associated with the development of cervical cancer. A number of factors may affect the liability to infection and subsequent progression to cervical intraepithelial neoplasia and cancer. This paper examines whether genetic factors are involved in explaining individual differences in liability. Data of 3178 women registered with the Netherlands Twin Register were successfully linked to the nationwide Dutch Pathology database that contains all results of mass screening for cervical cancer. The data from mono- and dizygotic twins and their female relatives were used to disentangle the influence of heritable and environmental factors on cervix smear abnormalities. Results showed that differences in cervix smear results clustered within families and resemblance was stronger in monozygotic twins (correlation 0.37, 95% confidence interval: 0.12-0.58) compared with other first-degree relatives (correlation 0.14, 95% confidence interval: -0.01-0.29). The familial clustering for an abnormal cervix smear is due to shared genetic factors that explain 37% of the variance in liability. The largest proportion of the variation in cervical smear abnormalities is due to unique environmental factors.

MeSH terms

  • Adult
  • Cervix Uteri / pathology*
  • Databases, Factual
  • Diseases in Twins / epidemiology
  • Diseases in Twins / genetics*
  • Diseases in Twins / pathology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mothers
  • Netherlands
  • Registries
  • Siblings
  • Twins, Dizygotic / genetics*
  • Twins, Monozygotic / genetics*
  • Uterine Cervical Dysplasia / epidemiology
  • Uterine Cervical Dysplasia / genetics*
  • Uterine Cervical Dysplasia / pathology
  • Uterine Cervical Neoplasms / epidemiology
  • Uterine Cervical Neoplasms / genetics*
  • Uterine Cervical Neoplasms / pathology
  • Vaginal Smears / methods