Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36.

Hien Luong, Hien Tt Luong, Jodie N Painter, Konstantin Shakhbazov, Brett Chapman, Anjali K Henders, Joseph E Powell, Dale R Nyholt, Grant W Montgomery
International journal of molecular epidemiology and genetics · 2013 · vol. 4(4) , pp. 193–206 · PMID:24319535 · W18549016
article OA: green CC0 ⤵ 9 in-corpus citations
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This study fine-mapped chromosome 1p36, identifying rare coding variants in WNT4 and CDC42 in cases and five common SNPs with stronger association signals, three of which have potential functional roles.

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Abstract

Genome-wide association studies show strong evidence of association with endometriosis for markers on chromosome 1p36 spanning the potential candidate genes WNT4, CDC42 and LINC00339. WNT4 is involved in development of the uterus, and the expression of CDC42 and LINC00339 are altered in women with endometriosis. We conducted fine mapping to examine the role of coding variants in WNT4 and CDC42 and determine the key SNPs with strongest evidence of association in this region. We identified rare coding variants in WNT4 and CDC42 present only in endometriosis cases. The frequencies were low and cannot account for the common signal associated with increased risk of endometriosis. Genotypes for five common SNPs in the region of chromosome 1p36 show stronger association signals when compared with rs7521902 reported in published genome scans. Of these, three SNPs rs12404660, rs3820282, and rs55938609 were located in DNA sequences with potential functional roles including overlap with transcription factor binding sites for FOXA1, FOXA2, ESR1, and ESR2. Functional studies will be required to identify the gene or genes implicated in endometriosis risk.

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endometriosis

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