Genetic susceptibility factors in familial nasopharyngeal carcinoma

Kaderi, Mohd Arifin and Purnomosari, Dewajani and Gaborieau, Valerie and Voegele, Catherine and Forey, Nathalie and Durand, Geoffroy and Chabrier, Amelie and Michelon, Jocelyne and Calvez - Kelm, Florence Le and Lesueur, Fabienne and Carrington, Mary and Hildesheim, Allan and Devi, Beena and Brenna, Paul (2016) Genetic susceptibility factors in familial nasopharyngeal carcinoma. In: 3rd Pan-Asian Biomedical Science Conference 2016 Kuala Lumpur, 7 – 8 Dec 2016, Kuala Lumpur. (Unpublished)

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Abstract

Nasopharyngeal carcinoma is common in Southern China, Hong Kong, Taiwan and Southeast Asian countries. The current study was performed on an exceptionally large multiplex NPC family from Sarawak, Malaysia (denoted as JAQBAB family). We aimed to explore the segregation of deleterious mutation(s) or NPC risk- associated allele within the genomic segment shared identical by descent (IBD) between the affected individuals. Genome-wide SNP-array covering all somatic chromosomes were performed on 11 of the NPC patients and their first-degree family members. The kinship was assessed and pairwise IBD estimation between target individuals were performed. Haplotype phasing was also performed on certain region of interests. Whole-exome sequencing was performed to identify deleterious mutations. The highest IBD score was detected within chromosome 10. Analysis of the exome sequencing data, however, did not find any deleterious mutation within this region that was shared between individuals in the JAQBAB family. Highest IBD score at chromosome 6 was found within the major histocompatibility complex (MHC) region, supporting strong HLA-EBV-NPC association that has been reported in an earlier study. HLA deep sequence-based typing (SBT) and gene sequencing on the 11 NPC patient samples revealed that the segregation of HLA-A*27:07 allele was consistent with the haplotype phasing pattern. Our results suggest that HLA-A*24:07 may harbour the risk allele for NPC among the subjects. However, further analysis is required before any definitive conclusion can be made. Further studies on the HLA-A*24:07 sequence may reveal more specific variation within this gene that can be associated with NPC risk in this family. In addition, further studies on HLA-A and risk of NPC other Southeast-Asian populations may shed more understanding about the association between HLA-A*24:07 and sporadic NPC in this region of the world.

Item Type:	Conference or Workshop Item (Plenary Papers)
Additional Information:	4643/55282
Uncontrolled Keywords:	Genetic susceptibility factors, familial nasopharyngeal carcinoma
Subjects:	R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC254 Neoplasms. Tumors. Oncology (including Cancer)
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Allied Health Sciences > Department of Biomedical Science (Effective:1st July 2011)
Depositing User:	Dr Mohd. Arifin Bin Kaderi
Date Deposited:	14 Feb 2017 12:48
Last Modified:	21 Mar 2017 09:43
URI:	http://irep.iium.edu.my/id/eprint/55282

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