Evaluation of polymorphisms in predicted target sites for micro RNAs differentially expressed in endometriosis

Zhao, Zhen Zhen, Croft, Larry, Nyholt, Dale R., Chapman, Brett, Treloar, Susan A., Hull, M. Louise and Montgomery, Grant W. 2011, Evaluation of polymorphisms in predicted target sites for micro RNAs differentially expressed in endometriosis, Molecular human reproduction, vol. 17, no. 2, pp. 92-103, doi: 10.1093/molehr/gaq084.

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Title Evaluation of polymorphisms in predicted target sites for micro RNAs differentially expressed in endometriosis
Author(s) Zhao, Zhen Zhen
Croft, Larry
Nyholt, Dale R.
Chapman, Brett
Treloar, Susan A.
Hull, M. Louise
Montgomery, Grant W.
Journal name Molecular human reproduction
Volume number 17
Issue number 2
Start page 92
End page 103
Total pages 12
Publisher Oxford University Press
Place of publication Oxford, Eng.
Publication date 2011-02
ISSN 1460-2407
Keyword(s) Adult
Cyclin-Dependent Kinase Inhibitor Proteins
Genetic Association Studies
Genetic Predisposition to Disease
Middle Aged
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Sequence Alignment
Tumor Necrosis Factor-alpha
Wolf-Hirschhorn Syndrome
Summary Previous microarray analyses identified 22 microRNAs (miRNAs) differentially expressed in paired ectopic and eutopic endometrium of women with and without endometriosis. To investigate further the role of these miRNAs in women with endometriosis, we conducted an association study aiming to explore the relationship between endometriosis risk and single-nucleotide polymorphisms (SNPs) in miRNA target sites for these differentially expressed miRNAs. A panel of 102 SNPs in the predicted miRNA binding sites were evaluated for an endometriosis association study and an ingenuity pathway analysis was performed. Fourteen rare variants were identified in this study. We found SNP rs14647 in the Wolf-Hirschhorn syndrome candidate gene1 (WHSC1) 3'UTR (untranslated region) was associated with endometriosis-related infertility presenting an odds ratio of 12.2 (95% confidence interval = 2.4-60.7, P = 9.03 × 10(-5)). SNP haplotype AGG in the solute carrier family 22, member 23 (SLC22A23) 3'UTR was associated with endometriosis-related infertility and more severe disease. With the individual genotyping data, ingenuity pathways analysis identified the tumour necrosis factor and cyclin-dependant kinase inhibitor as major factors in the molecular pathways. Significant associations between WHSC1 alleles and endometriosis-related infertility and SLC22A23 haplotypes and the disease severe stage were identified. These findings may help focus future research on subphenotypes of this disease. Replication studies in independent large sample sets to confirm and characterize the involvement of the gene variation in the pathogenesis of endometriosis are needed.
Language eng
DOI 10.1093/molehr/gaq084
Field of Research 1114 Paediatrics And Reproductive Medicine
0606 Physiology
1103 Clinical Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Copyright notice ©2010, The Author
Persistent URL http://hdl.handle.net/10536/DRO/DU:30106050

Document type: Journal Article
Collection: School of Life and Environmental Sciences
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