Genomewide Linkage Study in 1,176 Affected Sister Pair Families Identifies a Significant Susceptibility Locus for Endometriosis on Chromosome 10q26

Treloar SA, Susan A. Treloar, Wicks J, Jacqueline Wicks, Dale R. Nyholt, Grant W. Montgomery, Melanie Bahlo, Vicki E. Smith, Smith V, Vicki Smith, Dawson G, Gary Dawson, Ian Mackay, Ian J Mackay, MacKay IJ, Daniel E. Weeks, Bennett ST, Simon T. Bennett, Alisoun Carey, Alisoun H. Carey, Carey A, Kelly R. Ewen-White, Ewen-White KR, David L. Duffy, Daniel T. O’Connor, Daniel T O'Connor, O'connor DT, Barlow DH, David H. Barlow, Nicholas G. Martin, Stephen Kennedy, Kennedy SH, Stephen H Kennedy
American journal of human genetics · 2005 · vol. 77(3) , pp. 365–376 · doi:10.1086/432960 · PMID:16080113 · PMC1226203 · W2108178559
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A genomewide linkage study of 1,176 affected sister pair families identified a significant susceptibility locus for endometriosis on chromosome 10q26.

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Abstract

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.

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Condition tags

endometriosis

MeSH descriptors

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

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