title: DPYD*2A/*5A/*9A and UGT1A1*6/*28 polymorphisms in Chinese colorectal cancer patients.
abstract: OBJECTIVE
  Fluorouracil drugs and irinotecan are commonly used in the treatment of colorectal cancer (CRC), but some patients have severe toxic side effects in the conventional dose. DPYD*2A/*5A/*9A and UGT1A1 * 6/*28 polymorphisms are related to the toxicity of fluorouracil drugs and irinotecan, respectively. Herein, we investigated the frequencies of DPYD*2A/*5A/*9A and UGT1A1 * 6/*28 genotypes in Chinese CRC patients.
  
  
  METHODS
  For this study, 117 CRC patients' tumor tissues were examined through sequencing technology of the first generation to explore the distribution of DPYD*2A/*5A/*9A and UGT1A1 * 6/*28 genotypes.
  
  
  RESULTS
  DPYD*2A G/G genotype accounted for 100%. DPYD*5A A/A, A/G, and G/G genotypes accounted for 48.2, 37.5, and 14.3%, respectively. DPYD*9A T/T and T/C genotypes accounted for 85.7 and 14.3%, respectively. UGT1A1 * 6 G/G, G/A, and A/A genotypes accounted for 74.6, 21.8, and 3.6%, respectively. UGT1A1 * 28 TA6/TA6, TA6/TA7, and TA7/TA7 genotypes accounted for 71.8, 27.3, and 0.9%, respectively. The genotypes of DPYD*2A/*5A/*9A and UGT1A1 * 6/*28 were not associated with patient's sex, age, and primary tumor sites. Our findings showed that: (i) almost 57.1% of Chinese CRC patients had at least one variant of DPYD*5A and DPYD*9A; (ii) nearly 37.3% of Chinese CRC patients had at least one variant of UGT1A1 * 6 and UGT1A1 * 28.
  
  
  CONCLUSIONS
  It suggests that it is necessary for Chinese CRC patients to detect the genotypes of DPYD*5A/*9A and UGT1A1 * 6/*28 before treating with fluorouracil drugs and irinotecan.
authors.affiliation: Molecular Testing Laboratory, Hanzhong 3201 Hospital, School of Medicine, Xi'An Jiaotong University' Shaanxi, China.
authors.forename: Guo-Yin
authors.initials: GY
authors.lastname: Li
authors.affiliation: Molecular Testing Laboratory, Hanzhong 3201 Hospital, School of Medicine, Xi'An Jiaotong University' Shaanxi, China.
authors.forename: Jian-Feng
authors.initials: JF
authors.lastname: Duan
authors.affiliation: Molecular Testing Laboratory, Hanzhong 3201 Hospital, School of Medicine, Xi'An Jiaotong University' Shaanxi, China.
authors.forename: Wan-Jun
authors.initials: WJ
authors.lastname: Li
authors.affiliation: Molecular Testing Laboratory, Hanzhong 3201 Hospital, School of Medicine, Xi'An Jiaotong University' Shaanxi, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Liu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000188:drug therapy / Q000235:genetics*; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000235:genetics*; D005260:Female; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D055815:Young Adult; D000099148:UGT1A1 Enzyme
chemical_list: D042943:Dihydrouracil Dehydrogenase (NADP); D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme