دورية أكاديمية
Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches.
| العنوان: | Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches. |
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| المؤلفون: | Bremm JM; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Boquett JA; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Post-graduate Program in Child and Adolescent Health, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Silva Michels M; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Kowalski TW; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Genomic Medicine, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Gomes FG; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Vianna FSL; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Genomic Medicine, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Vieira Sanseverino MT; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; School of Medicine, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Fraga LR; Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Genomic Medicine, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Morphological Science, Institute of Health Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. |
| المصدر: | Systems biology in reproductive medicine [Syst Biol Reprod Med] 2021 Dec; Vol. 67 (6), pp. 450-462. Date of Electronic Publication: 2021 Sep 09. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 101464963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-6376 (Electronic) Linking ISSN: 19396368 NLM ISO Abbreviation: Syst Biol Reprod Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: New York : Informa Healthcare |
| مواضيع طبية MeSH: | Abortion, Habitual*/genetics , Epidermal Growth Factor*/genetics, Alleles ; Case-Control Studies ; Computational Biology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Pregnancy |
| مستخلص: | Recurrent pregnancy loss (RPL) is the most common reproductive failure, reaching 1-5% of women throughout their lives, and having unknown etiology in 50% of the cases. In humans, EGF-CFC1 ( E pidermal G rowth F actors & C ripto/ F RL-1/ C ryptic) gene family is composed by TDGF1 and CFC1 , two developmental genes. The aim of this study was to investigate the role of EGF-CFC on RPL. To this, multiple approaches were performed; we conducted an expression analysis of TDGF1 and CFC1 using publicly available data from Gene Omnibus Expression (GEO), systems biology analyses and functional prediction; and a molecular analysis carried out in a case-control study. Our GEO analysis showed a decrease in TDGF1 expression in the endometrium (p=0.049) and CFC1 expression in placenta (p=0.015) of women with RPL. Network analysis, gene ontology and literature pointed to a strong connection between EGF-CFC1 gene family to pathways that play key roles during pregnancy, including TGF-β, c-Src/MAPK/AKT, Notch, TNFα, IFNγ and IL-6. A pathogenicity score developed for this gene family showed that the c.-14+1429T>C (rs3806702) variant in the TDGF1 and the p.Arg47Gln (rs201431919) variant in CFC1 gene would be the ones with the highest deleterious effect for RPL. In the case-control study, which involved 149 women with RPL and 159 controls, no statistical difference was observed in the allele and genotype distributions of the variants studied in the two groups. In this study, we performed extensive bioinformatics analysis for biomarker prioritization followed by experimental validation of proposed selected markers. Although there is no statistical difference in the frequencies of these variants between RPL and controls, the expression analysis results suggest that TDGF1 and CFC1 genes might play a role in RPL. In addition, systems biology analyzes raise the hypothesis that genes in other signaling pathways that may be related to RPL as good candidates for future studies. Abbreviations RPL: recurrent pregnancy loss; EGF-CFC1 : E pidermal G rowth F actors - C ripto/ F RL-1; GEO: Gene Omnibus Expression; KEGG: Kyoto Encyclopedia of Genes and Genomes. |
| فهرسة مساهمة: | Keywords: Computational biology; cripto; cryptic; infertility; reproductive failure |
| المشرفين على المادة: | 62229-50-9 (Epidermal Growth Factor) |
| تواريخ الأحداث: | Date Created: 20210909 Date Completed: 20220117 Latest Revision: 20220117 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1080/19396368.2021.1965673 |
| PMID: | 34498535 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1939-6376 |
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| DOI: | 10.1080/19396368.2021.1965673 |