Tnfrsf13b Varıants Act As Modıfıers To Clınıcal Phenotypes In Common Varıable Immune Defıcıency Dısorders

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dc.authoridSinem Fırtına / 0000-0002-3370-8545
dc.authoridAslı Kutlu / 0000-0002-9169-388X
dc.authoridBegüm Işıkgil / 0000-0002-7541-4596
dc.authoridMedinenur Yozlu / 0000-0002-3580-7280
dc.authoridBeyza Nur Çepeci / 0000-0001-9417-2943
dc.authoridHülya Yılmaz / 0000-0001-5664-5893
dc.authoridYuk Yin NG / 0000-0001-9755-6045
dc.authoridÖzden Hatırnaz Ng / 0000-0001-7728-6527
dc.authoridAyça Kıykım / 0000-0001-5821-3963
dc.authoridEsra Yücel Özek / 0000-0003-3712-2522
dc.authoridElif Aydıner / 0000-0003-4150-5200
dc.authoridSafa Barış / 0000-0002-4730-9422
dc.authoridAhmet Oğuzhan Özen / 0000-0002-9065-1901
dc.authoridSerdar Nepesov / 0000-0002-4551-5433
dc.authoridYıldız Çamcıoğlu / 0000-0002-4796-6828
dc.authoridİsmail Reisli / 0000-0001-8247-6405
dc.authoridMuhlis Cem Ar / 0000-0002-0332-9253
dc.authoridMüge Sayitoğlu / 0000-0002-8648-213X
dc.authorscopusidAslı Kutlu / 57716458200
dc.authorwosidAslı Kutlu / AGG-7405-2022
dc.contributor.authorFırtına, Sinem
dc.contributor.authorKutlu, Aslı
dc.contributor.authorIşıkgil, Begüm
dc.contributor.authorYozlu, Medinenur
dc.contributor.authorÇepeci, Beyza Nur
dc.contributor.authorYılmaz, Hülya
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorHatırnaz, Özden
dc.contributor.authorKıykım, Ayça
dc.contributor.authorÖzek, Esra Yücel
dc.contributor.authorAydıner, Elif
dc.contributor.authorBarış, Safa
dc.contributor.authorÖzen, Ahmet Oğuzhan
dc.contributor.authorNepesov, Serdar
dc.contributor.authorÇamcıoğlu, Yıldız
dc.contributor.authorReisli, İsmail
dc.contributor.authorAr, Muhlis Cem
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2025-04-18T08:55:46Z
dc.date.available2025-04-18T08:55:46Z
dc.date.issued31.10.2024
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümü
dc.description.abstractObjective: The TNF receptor gene 13B (TNFSRF13B) is a member of the TNF superfamily which is crucial for B cell maturation, plasma cell differentiation, and antibody response. Impaired expression of the TNFRSF13B gene is associated with common variable immune deficiency (CVID), autoimmunity, and lymphoproliferation disorders. Besides the disease-causing variants of this gene, its different isoforms are associated with strong and weak TNFRSF13B expression that leads to an unbalanced B cell response. Materials and Methods: The study detected 26 variants (three synonymous, five missenses, eleven UTR, and seven intronic variants) in the TNFRSF13B gene by screening 68 CVID patients with targeted next generation sequencing. An integrative bioinformatics approach was utilized to provide a plausible explanation for CVID associations from different perspectives and to investigate the associations from the clinical findings. Results: Fifty-eight percent (15/26) of the detected variants were altered regulatory elements, such as transcription factor binding, miRNA binding sites, splice site regions or the thermodynamic impact on protein. We observed that patients who suffered from the potential splicing variants had significantly low IgA levels (p=0.009), autoimmunity (p=0.02) and gastrointestinal findings (p=0.05). In addition, the c.*79A>G 3-UTR variant was found with the low IgA and IgE levels. Thirteen variants found to have at least tenfold increased allele frequencies as compared to global databases indicating that the TNFRSF13B variants, which have a potential regulatory effect, are more common in CVID patients. Conclusions: All findings suggested that these variants may not be the causative variant for the CVID phenotype but the unbalanced TNFRSF13B alternative splices could contribute to the pathogenesis of patients independent from the underlying genetic background of CVID.
dc.identifier.citationFIRTINA, S., YENENLER-KUTLU, A., IŞIKGIL, B., YOZLU, M., CEPECI, B. N., YILMAZ, H., NG, Y. Y., NG, O. H., KIYKIM, A., YUCEL, E., KARAKOC-AYDINER, E., BARIS, S., ÖZER, A., NEPESOV, S., CAMCIOGLU, Y., REISLI, I., AR, M. C., SAYITOGLU, M. A. (2023). TNFRSF13B VARIANTS ACT AS MODIFIERS TO CLINICAL PHENOTYPES IN COMMON VARIABLE IMMUNE DEFICIENCY DISORDERS. Sabiad , 6(3), 210 - 218. doi.org/10.26650/JARHS2023-1346155
dc.identifier.doi10.26650/JARHS2023-1346155
dc.identifier.endpage218
dc.identifier.issue3
dc.identifier.startpage210
dc.identifier.trdizinid1272426
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1272426/tnfrsf13b-variants-act-as-modifiers-to-clinical-phenotypes-in-common-variable-immune-deficiency-disorders
dc.identifier.urihttps://hdl.handle.net/20.500.12713/6642
dc.identifier.volume6
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorKutlu, Aslı
dc.institutionauthorIşıkgil, Begüm
dc.institutionauthoridAslı Kutlu / 0000-0002-9169-388X
dc.institutionauthoridBegüm Işıkgil / 0000-0002-7541-4596
dc.language.isoen
dc.publisherİstanbul Üniversitesi
dc.relation.ispartofSabiad
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTNFRSF13B
dc.subjectin silico analysis
dc.subjectCVID
dc.subjectintegrated bioinformatics
dc.subjectPID
dc.titleTnfrsf13b Varıants Act As Modıfıers To Clınıcal Phenotypes In Common Varıable Immune Defıcıency Dısorders
dc.title.alternativeTnfrsf13b Varyantları, Yaygın Değişken İmmün Yetmezlik Klinik Fenotipinin Düzenlenmesinde Rol Oynar
dc.typeArticle

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