Copy-number variations in adult patients with chronic immune thrombocytopenia.

Emrah Yücesan Ozden Hatirnaz NgFevzi Firat YalnizHulya YilmazAyse SalihogluTugce Sudutan Ahmet Emre Eskazan Şeniz ÖngörenZafer BaslarTeoman SoysalUgur Özbek Muge Sayitoglu Muhlis Cem Ar

Published in: Expert review of hematology (2020)

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.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
genome wide
prognostic factors
gene expression
dna methylation
patient reported outcomes