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Copy-number variations in adult patients with chronic immune thrombocytopenia

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dc.contributor.authorYücesan, Emrah
dc.contributor.authorNg, Ozden Hatirnaz
dc.contributor.authorYalniz, Fevzi Firat
dc.contributor.authorYilmaz, Hulya
dc.contributor.authorSalihoglu, Ayse
dc.contributor.authorSudutan, Tugce
dc.contributor.authorEşkazan, Ahmet Emre
dc.contributor.authorOngoren, Seniz
dc.contributor.authorBaslar, Zafer
dc.contributor.authorSoysal, Teoman
dc.contributor.authorOzbek, Ugur
dc.contributor.authorSayitoglu, Muge
dc.contributor.authorAr, M. Cem
dc.contributor.institutionauthorYÜCESAN, EMRAH
dc.date.accessioned2020-10-13T20:59:39Z
dc.date.available2020-10-13T20:59:39Z
dc.date.issued2020-09-01T00:00:00Z
dc.description.abstractObjectives Immune thrombocytopenia (ITP) is an autoimmune disease with heterogeneous background. FCGR2C mutations were defined in one third of the patients but genetic players have not been fully elucidated yet. Although childhood ITP present as benign, ITP in adulthood is chronic disease with treatment challenges. This study aimed to focus on adult ITP patients using a whole genome genotyping that is valuable approach to identify the responsible genomic regions for the disease. Methods Herein 24 adult primary-refractory for ITP patients were evaluated using HumanCytoSNP12BeadChip,Illumina. Forty-six age and sex matched healthy individuals, and ptients awith nonhematological conditions were analyzed as controls. Identified CNV regions were verified by qRTPCR. T-cell receptor beta and delta (TCRB/TCRG) clonality were assessed by heteroduplex analysis in mosaic cases. Results Several CNV losses and gains were defined (losses:2q,7q,17q,19p, and gains: 1q,2p,3q,4q,7q,10q,12p,13q,14q,15q,17p,20q,21p,22q,Xp). Mosaic changes of different sizes (0.2-17.77Mb) were identified in five patients and three of them showed clonality. CNV regions that were unique to ITP patients were identified for the first time and among these genes, those related to immune regulation, and cellular trafficking were noteworthy. Conclusion: Identified CNV regions harbor several candidate genes, the functions of which might shed light on the pathogenesis of chronic ITP.
dc.identifier.citationYücesan E., Ng O. H. , Yalniz F. F. , Yilmaz H., Salihoglu A., Sudutan T., Eşkazan A. E. , Ongoren S., Baslar Z., Soysal T., et al., -Copy-number variations in adult patients with chronic immune thrombocytopenia-, EXPERT REVIEW OF HEMATOLOGY, 2020
dc.identifier.doi10.1080/17474086.2020.1819786
dc.identifier.pubmed32885695
dc.identifier.scopus85091385514
dc.identifier.urihttp://hdl.handle.net/20.500.12645/21583
dc.identifier.urihttps://www.tandfonline.com/doi/full/10.1080/17474086.2020.1819786
dc.identifier.wosWOS:000572237100001
dc.subjectImmune thrombocytopenia
dc.subjectClonality
dc.subjectCopy-number variation
dc.subjectSingle nucleotide polymorphism
dc.subjectWhole-genome genotyping
dc.titleCopy-number variations in adult patients with chronic immune thrombocytopenia
dc.typeArticle
dspace.entity.typePublication
local.avesis.idf98a01d0-b999-4aa1-aa9e-f9125dd5c1a7
local.publication.goal08 - İnsana Yakışır İş ve Ekonomik Büyüme
local.publication.isinternational1
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relation.isAuthorOfPublication.latestForDiscovery9ea2b80f-531b-49a7-83ef-723bfd8584b2
relation.isGoalOfPublication42dc4679-bf07-41ff-b435-3ecfdcf74555
relation.isGoalOfPublication.latestForDiscovery42dc4679-bf07-41ff-b435-3ecfdcf74555
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