Uses and limitations of twin studies

Abstract

Series of twin pairs selected because one (or both) is ill are prone to biassed ascertainment, and great care has to be taken to avoid this. Such bias is absent if the primary source is a twin registry established at birth. In general, series of twin pairs have no advantage over studies on sibs in assessing the size of genetic contribution to disease. However, individual monozygotic twin pairs who are discordant for single gene or multifactorial conditions offer unique opportunities for investigating postzygotic mutations, for searching for factors that may precipitate disease or influence its course, and for assessing the effect of prophylactic measures.