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

August 2005

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

The cause of endometriosis 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.

The International Endogene Study, headed by Stephen Kennedy and Grant Montgomery from Oxford University, England, sought to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes.

They conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a UK group), each with at least two members – mainly affected sister pairs – with surgically diagnosed disease. They 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 aetiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.

Source

Treloar SA, Wicks J, Nyholt DR, Montgomery GW, Bahlo M, Smith V, Dawson G, Mackay IJ, Weeks DE, Bennett ST, Carey A, Ewen-White KR, Duffy DL, O’connor DT, Barlow DH, Martin NG, Kennedy SH. Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. Am J Hum Genet. 2005 Sep;77(3):365-76.

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