Bronchopulmonary dysplasia and wnt pathway-associated single nucleotide polymorphisms

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dc.authorid0000-0002-5365-0950en_US
dc.contributor.authorAkat, Ayberk
dc.contributor.authorSemerci, Yılmaz
dc.contributor.authorUğurel, Osman Mutluhan
dc.contributor.authorErdemir, Ayşegül
dc.contributor.authorDanhaive, Olivier
dc.contributor.authorÇetinkaya, Merih
dc.contributor.authorTurgut-Balık, Dilek
dc.date.accessioned2022-01-14T12:51:43Z
dc.date.available2022-01-14T12:51:43Z
dc.date.issued2021en_US
dc.departmentFakülteler, Mühendislik ve Doğa Bilimleri Fakültesi, Temel Bilimler Bölümüen_US
dc.description.abstractAim: Genetic variants contribute to the pathogenesis of bronchopulmonary dysplasia (BPD). The aim of this study is to evaluate the association of 45 SNPs with BPD susceptibility in a Turkish premature infant cohort. Methods: Infants with gestational age <32 weeks were included. Patients were divided into BPD or no-BPD groups according to oxygen need at 28 days of life, and stratified according to the severity of BPD. We genotyped 45 SNPs, previously identified as BPD risk factors, in 192 infants. Results: A total of eight SNPs were associated with BPD risk at allele level, two of which (rs4883955 on KLF12 and rs9953270 on CHST9) were also associated at the genotype level. Functional relationship maps suggested an interaction between five of these genes, converging on WNT5A, a member of the WNT pathway known to be implicated in BPD pathogenesis. Dysfunctional CHST9 and KLF12 variants may contribute to BPD pathogenesis through an interaction with WNT5A. Conclusions: We suggest investigating the role of SNPs on different genes which are in relation with the Wnt pathway in BPD pathogenesis. We identified eight SNPs as risk factors for BPD in this study. In-silico functional maps show an interaction of the genes harboring these SNPs with the WNT pathway, supporting its role in BPD pathogenesis. Trial registration: NCT03467828. Impact: It is known that genetic factors may contribute to the development of BPD in preterm infants. Further studies are required to identify specific genes that play a role in the BPD pathway to evaluate them as a target for therapeutic interventions. Our study shows an association of BPD predisposition with certain polymorphisms on MBL2, NFKBIA, CEP170, MAGI2, and VEGFA genes at allele level and polymorphisms on CHST9 and KLF12 genes at both allele and genotype level. In-silico functional mapping shows a functional relationship of these five genes with WNT5A, suggesting that Wnt pathway disruption may play a role in BPD pathogenesis.en_US
dc.identifier.citationAkat, A., Yılmaz Semerci, S., Uğurel, O. M., Erdemir, A., Danhaive, O., Çetinkaya, M., & Turgut-Balık, D. (2021). Bronchopulmonary dysplasia and wnt pathway-associated single nucleotide polymorphisms. Pediatric research, 1-11.en_US
dc.identifier.endpage11en_US
dc.identifier.scopus2-s2.0-85120653641
dc.identifier.scopusqualityQ1
dc.identifier.startpage1en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12939/2133
dc.identifier.wosWOS:000724654800002
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorUğurel, Osman Mutluhan
dc.language.isoen
dc.publisherSpringer Natureen_US
dc.relation.ispartofPediatric Research
dc.relation.isversionof10.1038/s41390-021-01851-6en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCEP170en_US
dc.subjectMAGI2en_US
dc.subjectVEGFAen_US
dc.subjectMBL2en_US
dc.subjectCHST9en_US
dc.titleBronchopulmonary dysplasia and wnt pathway-associated single nucleotide polymorphisms
dc.typeArticle

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