title: Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.
abstract: OBJECTIVE
  Variations and haplotypes of the chymotrypsin C (CTRC) gene in Chinese patients with chronic pancreatitis (CP) and control subjects with genotype-phenotype correlation were investigated.
  
  
  METHODS
  One hundred and twenty-six patients with CP were analyzed. The entire sequence of coding regions of exons 2, 3 and 7 and their neighboring intronic regions in introns 1, 2 and 6 of the CTRC gene were analyzed using PCR sequence-specific primers and direct sequencing. The exonic region of exon 7 and the neighboring intronic region of intron 6 were also analyzed in 90 geographically matched healthy control subjects.
  
  
  RESULTS
  In total, 4 novel variations were identified in exons 2, 3 and 7 in 3 CP patients. A total of 2.3% (3/126) of our CP patients carried variations of the CTRC gene. We also first identified six new intronic variations in intron 6 which had not been reported before. The GAGGGG, GAGGAG and GAGTAG haplotypes assembled by six locus intronic variations c.640-41/c.640-40/c.640-39/c.640-37/c.640-36/c.640-35 in intron 6 were associated with a significantly higher susceptibility risk of CP (OR 66.75, 37.00, and 9.37, respectively).
  
  
  CONCLUSIONS
  Novel CTRC gene variations and haplotypes are associated with CP in a Chinese population.
authors.affiliation: Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Ming-Chu
authors.initials: MC
authors.lastname: Chang
authors.forename: Yu-Ting
authors.initials: YT
authors.lastname: Chang
authors.forename: Shu-Chen
authors.initials: SC
authors.lastname: Wei
authors.forename: Po-Chin
authors.initials: PC
authors.lastname: Liang
authors.forename: I-Shiow
authors.initials: IS
authors.lastname: Jan
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Chun-Hung
authors.initials: CH
authors.lastname: Kuo
authors.forename: Jau-Min
authors.initials: JM
authors.lastname: Wong
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002918:Chymotrypsin / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000201:enzymology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: D004247:DNA; D002918:Chymotrypsin; C117569:chymotrypsin C