Asian Pacific Journal of Cancer Prevention, Vol 12, 2011 1833 MTHFR Gene Polymorphisms in Bladder Cancer in the Turkish Population Asian Pacific J Cancer Prev, 12, 1833-1835 Introduction Bladder cancer is cause of cancer death globally and is the 9th most common malignancy. Parkin et al. reveal that bladder cancer appears 357.000 new cases and causes 145.000 death worldwide (Shelley et al. 2002). Folate plays the key role of supplying methyl groups for deoxynucleoside synthesis in humans (Blount et al. 1997). Duthie et al. has been shown low folate levels association between uracil disincorporation, chromosomal DNA damage, DNA strand breaks, impaired DNA repair and DNA hypomethylation (Duthie et al., 1999). A lot results have been revealed suggesting the role of folate and folate related enzyme polymorphisms in the etiology of cancer (Potter et al., 1993; Steinmetz et al., 1996). Folate related enzymes consist of lots of enzymes which one of them is the methylene tethra hydrofolate reductase (MTHFR) (Friedman et al., 1999; Parle-McDermott et al., 2006). The gene of this enzyme is called MTHFR gene and located on chromosome 1p36.3. Two common polymorphisms in the MTHFR gene are C677T and A1298C. First polymorphism C677T positioned in exon 4 (Goyette et al., 1994) leading to an alanine to valine conversion (Frosst et al., 1995). The other polymorphism A1298C is located in exon 7 and glutamic acid to change alanine. Previous studies have been shown that folate related to 1 Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, 2 Department of Medical Biology, 3 Department of Urology, Faculty of Medicine, University of Cukurova, Adana, Turkey *For correspondence: muzeyyenizmirli@ gmail.com Abstract Bladder cancer is the 9th most common cancer and is responsible for malignancy related death all on the world. Folate and folate related enzyme polymorphisms related to the cancer risk. The methylene tethrahydrofolate reductase (MTHFR) enzyme is folate related and association of bladder cancer and MTHFR gene. Our purpose was to assess the prevalence of MTHFR gene 677 CT and 1298 AC polymorphisms and Bladder cancer in Turkey. We intended that bladder cancer patients and controls and we used the Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. The MTHFR gene C677T and A1298C polymorphisms were associated with an increased risk of bladder cancer in our population (For the MTHFR gene C677T polymorphism and A1298C polymorphism; p=0.036<0.05; p=0.278>0.05 respectively). Consequently, the MTHFR gene C677T polymorphism augments the risk of bladder cancer in Turkey. Keywords: Bladder cancer - MTHFR gene - polymorphism RESEARCH COMMUNICATION MTHFR Gene Polymorphisms in Bladder Cancer in the Turkish Population Muzeyyen Izmirli 1 *, Nihal Inandiklioglu 2 , Deniz Abat 3 , Davut Alptekin 2 , Osman Demirhan 2 , Zuhtu Tansug 3 , Yildirim Bayazit 3 DNA damage causing cancer. Folate metabolism including MTHFR gene and having polymorphisms are affected ethnic backgrounds. Therefore, we designed this study about association of MTHFR gene and Turkish population. Materials and Methods Study Population This study was designed on cases were diagnosed with bladder cancer in urology institute on Cukurova University Medical Faculty Hospitals. 54 cases of having bladder cancer disease (59,85±14,089; 49 male, 6 female) and 50 controls (57,00±10,105; 34 male, 16 female) were recorded into the present study. Control group was composed of not having bladder cancer themselves and relatives. Whole came from the Cukurova region of southern Turkey, whose clinical data were on record at Cukurova University, Faculty of Medicine Hospitals, Adana, Turkey. The obtained bladder tissues were collected (fixed) into % 10 formolin solution and stored at -20°C. The research protocol was approved by the Ethical Committee of Cukurova University, Medical Faculty. Genotype Assessment The DNA isolation of the bladder tissues from bladder cancer patients groups the DNA isolation of the tissue samples collected from cases was performed by a