Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26

Susan A Treloar, Jacqueline Wicks, Dale R Nyholt, Grant W Montgomery, Melanie Bahlo, Vicki Smith, Gary Dawson, Ian J Mackay, Daniel E Weeks, Simon T Bennett, Alisoun Carey, Kelly R Ewen-White, David L Duffy, Daniel T O'connor, David H Barlow, Nicholas G Martin, Stephen H Kennedy

Research output: Contribution to journalArticlepeer-review

150 Citations (Scopus)


Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite >50 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a U.K. group), each with at least two members--mainly affected sister pairs--with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 (maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 (MLS = 2.09). Minor peaks (with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.

Original languageEnglish
Pages (from-to)365-76
Number of pages12
JournalAmerican Journal of Human Genetics
Issue number3
Publication statusPublished - Sept 2005
Externally publishedYes


  • Australia
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10
  • Endometriosis
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome, Human
  • Great Britain
  • Humans
  • Lod Score
  • Multifactorial Inheritance
  • Siblings


Dive into the research topics of 'Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26'. Together they form a unique fingerprint.

Cite this