title: The -4817 G>A (rs2238136) variant of the vitamin D receptor gene: a probable risk factor for colorectal cancer.
abstract: Vitamin D appears to have anti-tumor activities in the large bowel. Our aim was to investigate whether -4817 G>A (rs2238136) polymorphism located at 5'-untranslated region (5'-UTR) of the human vitamin D receptor (VDR) gene was associated with colorectal cancer (CRC) risk. We conducted a case-control study and VDR genotypes, determined by Bpu10I restriction endonuclease digestion of PCR-amplified DNA, were performed on 327 cases with CRC and 327 controls. The distribution of VDR -4817 G>A genotypes and alleles differed significantly between cases with CRC and controls even after adjustment for confounding factors such as age, BMI, sex, and smoking status. Individuals carrying the "AA" genotype had a 2.09-fold increased risk compared with those with "GG" genotype (P = 0.016, OR = 2.09, 95% CI = 1.15-3.78) and a 1.87-fold increased risk compared with those with "GG and GA" genotypes (P = 0.033, OR = 1.87, 95% CI = 1.05-3.33) for CRC. Furthermore, the VDR "A" allele was significantly overrepresented in cases with CRC than controls (P = 0.044; OR = 1.28, 95% CI = 1.01-1.63). Interestingly, the analysis of the SNP revealed that all these associations were stronger for women subjects than for all subjects combined. These data indicated for the first time a direct association between "AA" genotype of VDR gene -4817 G>A polymorphism and CRC, with a stronger association for female subjects. However, our findings remain to be confirmed in other populations.
authors.affiliation: Department of Cancer, Research Center for Gastroenterology and Liver Diseases (RCGLD), Shahid Beheshti University of Medical Sciences, Velenjak, Shahid Chamran Highway, 1985711151, Tehran, Iran. mahmouditouraj@gmail.com
authors.forename: Touraj
authors.initials: T
authors.lastname: Mahmoudi
authors.forename: Maral
authors.initials: M
authors.lastname: Arkani
authors.forename: Khatoon
authors.initials: K
authors.lastname: Karimi
authors.forename: Akram
authors.initials: A
authors.lastname: Safaei
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Rostami
authors.forename: Elham
authors.initials: E
authors.lastname: Arbabi
authors.forename: Mohamad Amin
authors.initials: MA
authors.lastname: Pourhoseingholi
authors.forename: Seyed Reza
authors.initials: SR
authors.lastname: Mohebbi
authors.forename: Abdolrahim
authors.initials: A
authors.lastname: Nikzamir
authors.forename: Sara
authors.initials: S
authors.lastname: Romani
authors.forename: Shohreh
authors.initials: S
authors.lastname: Almasi
authors.forename: Maryam
authors.initials: M
authors.lastname: Abbaszadeh
authors.forename: Mohammad
authors.initials: M
authors.lastname: Vafaei
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Zali
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol