Genomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkey

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dc.authorid0000-0001-6032-3328en_US
dc.authorscopusid57197491466en_US
dc.authorwosidABI-6100-2020en_US
dc.contributor.authorAkıncı, Ayşehan
dc.contributor.authorKara, Altan
dc.contributor.authorÖzgür, Aykut
dc.contributor.authorTürkkahraman, Doğa
dc.contributor.authorAksu, Soner
dc.date.accessioned2021-12-20T08:41:09Z
dc.date.available2021-12-20T08:41:09Z
dc.date.issued2022en_US
dc.departmentFakülteler, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.description.abstractBackground Obesity is a complex genetic-based pediatric disorder which triggers life-threatening conditions. Therefore, the understanding the molecular mechanisms of obesity has been a significant approach in medicine. Computational methods allow rapid and comprehensive pathway analysis, which is important for generation of diagnosis and treatment of obesity. Methods and results Aims of our study are to comprehensively investigate genetic characteristics of obesity in children with non-syndromic, early-onset (< 7 years), and severe obesity (BMI-SDS > 3) through computational approaches. First, the mutational analyses of 41 of obesity-related genes in 126 children with non-syndromic early-onset severe obesity and 76 healthy non-obese controls were performed using the next generation sequencing (NGS) technique, and the NGS data analyzed by using bioinformatics methods. Then, the relationship between pathogenic variants and anthropometric/biochemical parameters was further evaluated. Obtained results demonstrated that the 15 genes (ADIPOQ, ADRB2, ADRB3, IRS1, LEPR, NPY, POMC, PPARG, PPARGC1A, PPARGC1B, PTPN1, SLC22A1, SLC2A4, SREBF1 and UCP1) which directly related to obesity found linked together via biological pathways and/or functions. Among these genes, IRS1, PPARGC1A, and SLC2A4 stand out as the most central ones. Furthermore, 12 of non-synonymous pathogenic variants, including six novels, were detected on ADIPOQ (G90S and D242G), ADRB2 (V87M), PPARGC1A (E680G, A477T, and R656H), UCP1 (Q44R), and IRS1 (R302Q, R301H, R301C, H250P, and H250N) genes. Conclusion We propose that 12 of non-synonymous pathogenic variations detected on ADIPOQ, ADRB2, PPARGC1A, UCP1, and IRS1 genes might have a cumulative effect on the development and progression of obesity.en_US
dc.identifier.citationAkıncı, A., Kara, A., Özgür, A., Türkkahraman, D. & Aksu, S. (2022). Genomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkey. Molecular Biology Reports, 49(3), pp. 1883-1893. https://doi.org/10.1007/s11033-021-06999-2en_US
dc.identifier.doi10.1007/s11033-021-06999-2en_US
dc.identifier.endpage1893en_US
dc.identifier.issue3en_US
dc.identifier.pmidPMID: 34850337en_US
dc.identifier.scopus2-s2.0-85120344867en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage1883en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-021-06999-2
dc.identifier.urihttps://hdl.handle.net/20.500.13055/95
dc.identifier.volume49en_US
dc.identifier.wosWOS:000723985800001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynak.otherSCI-E - Science Citation Index Expandeden_US
dc.institutionauthorAksu, Soner
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectObesityen_US
dc.subjectGeneticsen_US
dc.subjectBioinformaticsen_US
dc.subjectPathway Analysisen_US
dc.subjectSNPen_US
dc.titleGenomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkeyen_US
dc.typeArticleen_US
dspace.entity.typePublication

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