Association of TP53 codon 72 and CDH1 genetic polymorphisms with colorectal cancer risk in Bangladeshi population Sanzana Fareen Rivu a, 1 , Mohd Nazmul Hasan Apu a, 1 , Samia Shabnaz a , Noor Ahmed Nahid a , Md. Reazul Islam a , Mir Md. Abdullah Al-Mamun a , Zabun Nahar b , Sikder Nahidul Islam Rabbi c , Maizbha Uddin Ahmed a , Mohammad Safiqul Islam d, *, Abul Hasnat a a Department of Clinical Pharmacy and Pharmacology, Faculty of Pharmacy, University of Dhaka, Dhaka 1000, Bangladesh b Department of Pharmacy, University of Asia Pacific, Dhaka, Bangladesh c Pharmacogenetics Lab, Labaid Limited, Dhaka, Bangladesh d Department of Pharmacy, Noakhali Science and Technology University, Sonapur, Noakhali 3814, Bangladesh A R T I C L E I N F O Article history: Received 28 January 2017 Received in revised form 6 April 2017 Accepted 16 May 2017 Available online xxx Keywords: Colorectal cancer Genetic polymorphisms TP53 codon 72 CDH1 Bangladeshi population A B S T R A C T Till now no pharmacogenetic study of TP53 codon 72 (Arg72Pro) and CDH1 rs16260 (-160C<A) genes has been reported on Bangladeshi population relating those with colorectal cancer. So the aim of the study is to determine whether there is an elevated risk of colorectal cancer development with TP53 codon 72 and CDH1 rs16260 genetic polymorphism in Bangladeshi population for the first time. To investigate the association of these two SNPs, we conducted a case-control study with 288 colorectal cancer patients and 295 healthy volunteers by using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. We found an increased risk of association between Arg/Pro heterozygosity (adjusted OR = 2.58, 95% CI = 1.77–3.77, p < 0.05) and Pro/Pro mutant homozygosity (adjusted OR = 2.92, 95% CI = 1.78–4.78, p < 0.05) along with the combined genotype (Arg/Pro + Pro/Pro) (adjusted OR = 2.70, 95% CI = 1.90–3.82, p < 0.05) and colorectal cancer predisposition. In case of CDH1 rs16260 polymorphism, C/A heterozygous and A/A mutant homozygous are significantly (p < 0.05) found to be associated with colorectal cancer risk with adjusted OR of 1.94 and 2.63, respectively. The combined genotype of C/A and A/A was also found to be strongly associated with colorectal cancer risk compared to C/C genotype (adjusted OR = 2.02, 95% CI = 1.42–2.87, p < 0.05). In conclusion, heterozygosity and mutant homozygosity as well as the combination of both TP53 Arg72Pro and CDH1 rs16260 polymorphisms are responsible to increase the risk of colorectal cancer development in Bangladeshi population. © 2017 Elsevier Ltd. All rights reserved. 1. Introduction Colorectal cancer is ascribed as a malignant tumor arising from the inner wall of the large intestine [1]. It is because of the abnormal growth of cells that have the capability to invade to other parts of the body [2]. Signs and symptoms may include a change in bowel movements, blood in the stool, weight loss, and feeling tired all the time [3]. In case of men colorectal cancer is the third most common cancer (746,000 cases, 10.0% of the total) and the second in women (614,000 cases, 9.2% of the total) worldwide [4,5]. Mortality is lower (694,000 deaths, 8.5% of the total) with more deaths (52%) in the less developed regions of the world, indicating a poorer survival in these regions [4,5]. Epidemiological studies have ascertained that colorectal cancer is associated with familial and hereditary factors, age as well as environmental and lifestyle-related risk factors for example obesity, physical inactivity, alcohol consumption and smoking [6–9]. A recent study on twins has reported that 35% of all colorectal cancer can be acquired from inherited genetic suscepti- bility [10,11]. Sporadic colorectal cancer is usually seen in 70% to 75% of cases [12]. The risk factor of the disease is delineated from the interrelation between the breast cancer risk and SNPs of various genes [13]. * Corresponding author. E-mail address: research_safiq@yahoo.com (M.S. Islam). 1 These authors contributed equally. http://dx.doi.org/10.1016/j.canep.2017.05.005 1877-7821/© 2017 Elsevier Ltd. All rights reserved. Cancer Epidemiology 49 (2017) 46–52 Contents lists available at ScienceDirect Cancer Epidemiology The International Journal of Cancer Epidemiology, Detection, and Prevention journal homepage: www.cancerepidemiology .net