Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.

Autor: Leung IC; Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong., Chong CC; Department of Surgery, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Cheung TT; Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong., Yeung PC; Department of Surgery, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Ng KK; Department of Surgery, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Lai PB; Department of Surgery, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Chan SL; State Key Laboratory of Translational Oncology, Department of Clinical Oncology, Sir YK Pao Centre for Cancer, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Chan AW; Department of Anatomical and Cellular Pathology, State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Tang PM; Department of Anatomical and Cellular Pathology, State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Hong Kong, Hong Kong., Cheung ST; Department of Surgery, The Chinese University of Hong Kong, Hong Kong, Hong Kong.; Li Ka Shing Institute of Health Sciences, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
Jazyk: angličtina
Zdroj: Journal of cellular and molecular medicine [J Cell Mol Med] 2020 Sep; Vol. 24 (18), pp. 10705-10713. Date of Electronic Publication: 2020 Aug 11.
DOI: 10.1111/jcmm.15691
Abstrakt: Expression of ATP-binding cassette B5 (ABCB5) has been demonstrated to confer chemoresistance, enhance cancer stem cell properties and associate with poor prognosis in hepatocellular carcinoma (HCC). The aim of this study was to evaluate the genetic variations of ABCB5 in HCC patients with reference to healthy individuals and the clinicopathological significance. A pilot study has examined 20 out of 300 pairs HCC and paralleled blood samples using conventional sequencing method to cover all exons and exon/intron regions to investigate whether there will be novel variant sequence and mutation event. A total of 300 HCC and 300 healthy blood DNA samples were then examined by Sequenom MassARRAY genotyping and pyrosequencing for 38 SNP and 1 INDEL in ABCB5. Five novel SNPs were identified in ABCB5. Comparison of DNA from blood samples of HCC and healthy demonstrated that ABCB5 SNPs rs75494098, rs4721940 and rs10254317 were associated with HCC risk. Specific ABCB5 variants were associated with aggressive HCC features. SNP rs17143212 was significantly associated with ABCB5 expression level. Nonetheless, the paralleled blood and tumour DNA sequences from HCC patients indicated that ABCB5 mutation in tumours was not common and corroborated the TCGA data sets. In conclusion, ABCB5 genetic variants had significant association with HCC risk and aggressive tumour properties.
(© 2020 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.)
Databáze: MEDLINE
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