Genome Medicine


Review

Sex chromosomes and genetic association studies

David G Clayton

Author Affiliations

Wellcome Trust/Juvenile Diabetes Research Foundation Diabetes and Inflammation Laboratory, Cambridge University, Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Cambridge CB2 0XY, UK

Genome Medicine 2009, 1:110 doi:10.1186/gm110

Published: 24 November 2009

Abstract

Although the literature concerning statistical testing for genotype-phenotype association in family-based and population-based studies is very extensive, until recently the sex chromosomes have received little attention. Here it is shown that the X chromosome in particular presents special problems with respect to efficient analysis of mixed-sex population studies, and as a result of X inactivation. This paper reviews recent developments in approaching these problems.