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Functional Non-Coding SNPs in Health and Diseases
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Functional Non-Coding SNPs in Health and Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 June 2020) | Viewed by 4162

Special Issue Editor

Dr. Marina A. Afanasyeva

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Guest Editor
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia
Interests: autoimmunity; genome editing; causative SNPs; druggable genome; transcriptional regulation

Special Issue Information

Dear Colleagues,

Genome-wide association studies have revealed many associations between single-nucleotide polymorphisms in human genome and predisposition to complex diseases, such as autoimmunity, cardiovascular disease, and cancer. These data have strong potential to improve our knowledge of the molecular mechanisms of these diseases and to provide drug developers with new therapy targets. However, a great amount of additional research and conceptualization are needed to transform the statistical association data into valuable fundamental and practical output. Which particular SNPs in LD groups are functional and truly causative? Are they found among common variants or do rare polymorphisms mediate the disease risk? Can an isolated variant significantly influence the disease molecular pathways or do SNPs in strong LD function as haplogroups? Expression of which genes and in which cells and cell states do noncoding functional variants affect? And is the transcriptional effect of noncoding variants mediated only by altering transcription factors binding, or are other mechanisms also involved?

We welcome researchers in the field to reflect on these questions, raise their own, and share the latest experimental data in the upcoming Special Issue—"Functional Noncoding SNPs in Health and Diseases". Both reviews and original research papers are highly appreciated.

Dr. Marina A. Afanasyeva
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • Post-GWAS
  • Complex diseases
  • Causative SNPs
  • Noncoding SNPs
  • LD
  • Transcription factors binding
  • eQTL
  • Fine-mapping
  • Functional studies

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Published Papers (1 paper)

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Research

17 pages, 549 KiB  
Article
Genetic Polymorphisms in miR-604A>G, miR-938G>A, miR-1302-3C>T and the Risk of Idiopathic Recurrent Pregnancy Loss
by Sung-Hwan Cho, Ji-Hyang Kim, Hui-Jeong An, Young-Ran Kim, Eun-Hee Ahn, Jung-Ryeol Lee, Jung-Oh Kim, Jung-Jae Ko and Nam-Keun Kim
Int. J. Mol. Sci. 2021, 22(11), 6127; https://doi.org/10.3390/ijms22116127 - 7 Jun 2021
Cited by 10 | Viewed by 3734
Abstract
The purpose of this study was to investigate whether polymorphisms in five microRNAs (miRNAs), miR-604A>G, miR-608C>G, 631I/D, miR-938G>A, and miR-1302-3C>T, are associated with the risk of idiopathic recurrent pregnancy loss (RPL). Blood samples were collected from 388 patients [...] Read more.
The purpose of this study was to investigate whether polymorphisms in five microRNAs (miRNAs), miR-604A>G, miR-608C>G, 631I/D, miR-938G>A, and miR-1302-3C>T, are associated with the risk of idiopathic recurrent pregnancy loss (RPL). Blood samples were collected from 388 patients with idiopathic RPL (at least two consecutive spontaneous abortions) and 227 control participants. We found the miR-604 AG and AG + GG genotypes of miR-604, the miR-938 GA and GA + AA genotypes of miR-938, and the miR-1302-3CT and CT + TT genotypes of miR-1302-3 are less frequent than the wild-type (WT) genotypes, miR-604AA, miR-938GG, and miR-1302-3CC, respectively, in RPL patients. Using allele-combination multifactor dimensionality reduction (MDR) analysis, we found that eight haplotypes conferred by the miR-604/miR-608/miR-631/miR-938/miR-1302-3 allele combination, A-C-I-G-T, A-C-I-A-C, G-C-I-G-C, G-C-I-G-T, G-G-I-G-C, G-G-I-G-T, G-G-I-A-C, G-G-D-G-C, three from the miR-604/miR-631/miR-938/miR-1302-3 allele combination, A-I-G-T, G-I-G-C, G-I-A-T, one from the miR-604/miR-631/miR-1302-3 allele combination, G-I-C, and two from the miR-604/miR-1302-3 allele combination, G-C and G-T, were less frequent in RPL patients, suggesting protective effects (all p < 0.05). We also identified the miR-604A>G and miR-938G>A polymorphisms within the seed sequence of the mature miRNAs and aligned the seed sequences with the 3′UTR of putative target genes, methylenetetrahydrofolate reductase (MTHFR) and gonadotropin-releasing hormone receptor (GnRHR), respectively. We further found that the binding affinities between miR-604/miR-938 and the 3′UTR of their respective target genes (MTHFR, GnRHR) were significantly different for the common (miR-604A, miR-938G) and variant alleles (miR-604G, miR-938A). These results reveal a significant association between the miR-604A>G and miR-938G>A polymorphisms and idiopathic RPL and suggest that miRNAs can affect RPL in Korean women. Full article
(This article belongs to the Special Issue Functional Non-Coding SNPs in Health and Diseases)
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