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Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases

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Abstract

Background

Inflammatory bowel diseases (IBDs), including Crohn’s disease (CD) and ulcerative colitis (UC), are multifactorial disorders that result from a dysregulated inflammatory response to environmental factors in genetically predisposed individuals. Recently, microRNAs (miRNAs) have been shown to be involved in the development of IBDs.

Aims

We investigated common variants in five miRNA genes in a cohort of Italian IBD patients, to evaluate their possible role in the disease’s susceptibility and phenotype manifestations.

Methods

The analysis included 267 CD patients, 207 UC patients, and 298 matched healthy controls. Polymorphisms in the MIR122, MIR499, MIR146A, MIR196A2, and MIR124A genes were evaluated by allelic discrimination assay.

Results

We did not find associations between mir polymorphisms and IBD susceptibility. In both diseases, rs17669 and rs11614913 (MIR122 and MIR196A2) seem to contribute to clinical phenotypes: ileal location in CD (odds ratio [OR] = 1.82, p = 0.03; OR = 0.51, p = 0.01), and left-sided extent in UC (OR = 0.43, p = 0.05; OR = 0.28, p = 0.002). In CD, the MIR124A polymorphism (rs531564) contributed to colon location (p = 0.03, OR = 2.74). Finally, the variant allele of rs11614913 was associated with early age at onset in both diseases (p = 0.05 and p = 0.02).

Conclusions

We showed for the first time that polymorphisms in MIR122, MIR196A2, and MIR124A could play a role in clinical phenotype modulation in IBD.

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Authors and Affiliations

  1. Department of Biomedicine and Prevention, Genetics Section, University of Rome “Tor Vergata”, 00133, Rome, Italy

    Cinzia Ciccacci, Cristina Politi, Andrea Latini, Giuseppe Novelli & Paola Borgiani

  2. Gastroenterology Unit, Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, Italy

    Livia Biancone & Emma Calabrese

Authors
  1. Cinzia Ciccacci
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  2. Cristina Politi
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  3. Livia Biancone
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  4. Andrea Latini
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  5. Giuseppe Novelli
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  6. Emma Calabrese
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  7. Paola Borgiani
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Corresponding author

Correspondence to Paola Borgiani.

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Conflict of interest

The authors (CC, CP, LB, AL, GN, EC, and PB) have no conflicts of interest to declare.

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No funding was received for the preparation of this study.

Ethical statement

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

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Ciccacci, C., Politi, C., Biancone, L. et al. Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. Mol Diagn Ther 21, 107–114 (2017). https://doi.org/10.1007/s40291-016-0240-1

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