title: CYP2W1 variant alleles in Caucasians and association of the CYP2W1 G541A (Ala181Thr) polymorphism with increased colorectal cancer risk.
abstract: OBJECTIVE
  To detect differences in the frequency of the known nonsynonymous CYP2W1 polymorphisms between colorectal cancer patients and healthy subjects.
  
  
  METHODS
  The study group consisted of 150 colorectal patients and 263 controls. The presence of five nonsynonymous CYP2W1 polymorphisms was analyzed by novel amplification-restriction methods.
  
  
  RESULTS
  Two nonsynonymous SNPs causing the amino acid substitutions Val432Ile and Gln482His were monomorphic in the population study. Two nonsynonymous SNPs previously unknown in Caucasians, 1463T (rs3808348) and 173C (no rs number assigned), were detected in the population study, although these were not associated with colorectal cancer risk. Regarding the 541G/A polymorphism (rs3735684), the 541G allele (odds ratio: 2.2; 95% CI: 1.2-4.1) and the 541GG genotype (odds ratio: 2.06; 95% CI: 1.1-3.9) were associated with increased colorectal cancer risk in the population studied. Conversely, the 173C-541A-1463C haplotype (odds ratio: 0.46; 95% CI: 0.2-0.9) showed a protective odds ratio value.
  
  
  CONCLUSIONS
  CYP2W1 variant alleles are common among Caucasian individuals and, of these, the CYP2W1 G541A (Ala181Thr) polymorphism is associated with increased colorectal cancer risk.
authors.affiliation: Department of Pharmacology, School of Medicine, University of Extremadura, 06071 Badajoz, Spain. ggervasi@unex.es
authors.forename: Guillermo
authors.initials: G
authors.lastname: Gervasini
authors.forename: Silvia Gonzalez
authors.initials: SG
authors.lastname: de Murillo
authors.forename: Jose M
authors.initials: JM
authors.lastname: Ladero
authors.forename: Jose A G
authors.initials: JA
authors.lastname: Agúndez
mesh_terms: D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072467:Cytochrome P450 Family 2; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013912:Threonine / Q000378:metabolism; D044465:White People / Q000235:genetics
chemical_list: D013912:Threonine; D003577:Cytochrome P-450 Enzyme System; C509336:CYP2W1 protein, human; D000072467:Cytochrome P450 Family 2