Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13–15

Krina T Zondervan, Susan A Treloar, Jianghai Lin, Daniel E Weeks, Dale R Nyholt, Jon Mangion, Ian Mackay, Ian J MacKay, Lon R Cardon, Nicholas G Martin, Stephen H Kennedy, Stephen Kennedy, Grant W Montgomery
Human Reproduction · 2006 · vol. 22(3) , pp. 717–728 · doi:10.1093/humrep/del446 · PMID:17158817 · W1997883911
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Linkage analysis in families with multiple endometriosis cases identified a chromosomal region on 7p13–15 that likely harbors one or more susceptibility loci with near-Mendelian inheritance.

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Abstract

BACKGROUND: Endometriosis is a common disease with a heritable component. The collaborative International Endogene Study consists of two data sets (Oxford and Australia) comprising 1176 families with multiple affected. The aim was to investigate whether the apparent concentration of cases in a proportion of families could be explained by one or more rare variants with (near-)Mendelian autosomal inheritance. METHODS AND RESULTS: Linkage analyses (aimed at finding chromosomal regions harbouring disease-predisposing genes) were conducted in families with three or more affected (Oxford: n = 52; Australia: n = 196). In the Oxford data set, a non-parametric linkage score (Kong & Cox (K&C) Log of ODds (LOD)) of 3.52 was observed on chromosome 7p (genome-wide significance P = 0.011). A parametric MOD score (equal to maximum LOD maximized over 357 possible inheritance models) of 3.89 was found at 65.72 cM (D7S510) for a dominant model with reduced penetrance. After including the Australian data set, the non-parametric K&C LOD of the combined data set was 1.46 at 57.3 cM; the parametric analysis found an MOD score of 3.30 at D7S484 (empirical significance: P = 0.035) for a recessive model with high penetrance. Critical recombinant analysis narrowed the probable region of linkage down to overlapping 6.4 Mb and 11 Mb intervals containing 48 and 96 genes, respectively. CONCLUSIONS: This is the first report to suggest that there may be one or more high-penetrance susceptibility loci for endometriosis with (near-)Mendelian inheritance.

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Condition tags

endometriosis

MeSH descriptors

Chromosomes, Human, Pair 7 Endometriosis Genetic Predisposition to Disease Australia Chromosomes, Human, Pair 7 Endometriosis Female Genetic Linkage Genetic Predisposition to Disease Haplotypes Humans Lod Score Phenotype United Kingdom

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