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

Zhen Zhao, Zhen Zhen Zhao, Larry Croft, Dale R Nyholt, Brett Chapman, Susan A Treloar, M Louise Hull, Grant W Montgomery
Molecular human reproduction · 2010 · vol. 17(2) , pp. 92–103 · doi:10.1093/molehr/gaq084 · PMID:20935158 · W2129733304
article OA: bronze CC0 ⤵ 18 in-corpus citations
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This study evaluated single-nucleotide polymorphisms in predicted microRNA target sites and found associations between specific variants and endometriosis-related infertility and disease severity.

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Abstract

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.

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Condition tags

mesh:D004715endometriosisinfertility

MeSH descriptors

Endometriosis Endometrium Genetic Association Studies MicroRNAs Polymorphism, Single Nucleotide Adult Cyclin-Dependent Kinase Inhibitor Proteins Cyclin-Dependent Kinase Inhibitor Proteins Endometriosis Endometrium Female Genetic Predisposition to Disease Genotype Haplotypes Humans MicroRNAs Middle Aged Polymerase Chain Reaction Risk Sequence Alignment

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Cited by (18)

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