A 3 untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma

Autor:	Saira Nawaz, Saeed Akhter, Raheel Qamar, Rabia Noreen, Syeda Hafiza Benish Ali, Maleeha Azam, Lambertus A. Kiemeney, Kashif Bangash, Khursheed Anwar, Muhammad Athar Khawaja, Abid Ali Qureshi, Muhammad Younis, Abdur Rauf, Tayyaba Ahmed
Rok vydání:	2018
Předmět:	0301 basic medicine Adult Male medicine.medical_specialty DNA Repair Genotype DNA repair Gastroenterology DNA Glycosylases 03 medical and health sciences XRCC1 All institutes and research themes of the Radboud University Medical Center 0302 clinical medicine XRCC3 Internal medicine Genetics Carcinoma medicine Humans Pakistan 3' Untranslated Regions Genetics (clinical) Bladder cancer business.industry Three prime untranslated region Odds ratio Middle Aged medicine.disease Molecular biology Confidence interval DNA-Binding Proteins 030104 developmental biology Urinary Bladder Neoplasms Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] 030220 oncology & carcinogenesis Case-Control Studies Female business Polymorphism Restriction Fragment Length
Zdroj:	Annals of Human Genetics, 82, 74-87 Annals of Human Genetics, 82, 2, pp. 74-87
ISSN:	0003-4800
Popis:	Altered DNA repair capacity may affect an individual's susceptibility to cancers due to compromised genomic integrity. This study was designed to elucidate the association of selected polymorphisms in DNA repair genes with urothelial bladder carcinoma (UBC). OGG1 rs1052133 and rs2304277, XRCC1 rs1799782 and rs25487, XRCC3 rs861539, XPC rs2228001, and XPD rs13181 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 200 UBC cases and 200 controls. We found association of OGG1 rs2304277 [odds ratio (OR)GG = 3.55, 95% confidence interval (CI) = 1.79-7.06] and XPC rs2228001 (ORAC = 2.38, 95% CI = 1.43-3.94) with UBC. In stratified analysis with respect to smoking status, OGG1 rs2304277 and XPC rs2228001 exhibited increased risk in smokers [(rs2304277 ORGG = 4.96, 95% CI = 1.51-16.30) (rs2228001 ORAC = 2.19, 95% CI = 1.02-4.72)] as well as nonsmokers [(rs2304277 ORGG = 2.95, 95% CI = 1.26-6.90) (rs2228001 ORAC = 2.57, 95% CI = 1.31-5.04)]. These polymorphisms were also associated with both low-grade [(rs2304277 ORGG = 3.73, 95% CI = 1.72-8.09) (rs2228001 ORAC = 2.18, 95% CI = 1.21-3.92)] and high-grade tumors [(rs2304277 ORGG = 3.45, 95% CI = 1.52-7.80) (rs2228001 ORAC = 2.81, 95% CI = 1.48-5.33)] as well as with non-muscle-invasive bladder cancer [(rs2304277 ORGG = 4.03, 95% CI = 1.87-8.67) (rs2228001 ORAC = 2.14, 95% CI = 1.20-3.81)] and muscle-invasive bladder cancer [(rs2304277 ORGG = 3.06, 95%CI = 1.31-7.13) (rs2228001 ORAC = 2.95, 95%CI = 1.51-5.75)]. This is the first study on DNA repair gene polymorphisms and UBC in the Pakistani population. It identifies OGG1 rs2304277 and replicates XPC rs2228001 as significant modulators of UBC susceptibility.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdd913fdddd1be6b5b86205645b20ae https://hdl.handle.net/2066/183698 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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