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Disease Markers
Volume 2017 (2017), Article ID 1474560, 11 pages
Research Article

Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population

1Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia
2Department of Molecular Genetics, Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt
3Department of Surgery, Faculty of Medicine, Umm Al-Qura University, Mecca 21955, Saudi Arabia
4Department of Urology, King Abdullah Medical City Specialist Hospital, Mecca 21955, Saudi Arabia
5Division of Internal Medicine, Al-Noor Specialist Hospital, Mecca 21955, Saudi Arabia

Correspondence should be addressed to Nasser Attia Elhawary

Received 5 December 2016; Revised 21 January 2017; Accepted 5 February 2017; Published 27 February 2017

Academic Editor: Eric A. Singer

Copyright © 2017 Nasser Attia Elhawary et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


We evaluated the associations between seven single nucleotide polymorphisms and susceptibility to urothelial bladder carcinoma (UBC) in a Saudi population. Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays. The rs1801133 and rs1801394 variants showed strong associations with UBC (OR = 2.3, ; OR = 2.6, , resp.). Homozygosity of Pro72 conferred a significant double risk in cases compared with controls (30.8% versus 15.4%), but the homozygote Arg/Arg had no effect on risk. Genotypic combinations of GSTM1/GSTT1, rs4646903/rs1048943, and rs1801133/rs1801394 exhibited significant linkage with the disease (, ; , ; and , , resp.). The GSTM1 and rs1042522Arg and rs1801394G variant alleles were more frequent in current smokers with UBC (52.4%, 52.5%, and 64.3%, resp.) than were the corresponding wild-types. Despite some variants having only a slight effect on UBC risk, the interaction effect of combined genetic biomarkers—or even the presence of one copy of a variant allele—is potentially much greater. Perhaps more studies regarding next-generation genetic sequencing and its utility can add to the risk of UBC.