Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.

Abstract

BACKGROUND/AIMS:

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).

CONCLUSION:

Novel CTRC gene variations and haplotypes are associated with CP in a Chinese population.

• Authors: Ming-Chu Chang, Yu-Ting Chang, Shu-Chen Wei, Po-Chin Liang, I-Shiow Jan, Yi-Ning Su, Chun-Hung Kuo, Jau-Min Wong
• Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (Pancreatology) Vol. 9 Issue 3 Pg. 287-92 ( 2009) ISSN: 1424-3911 [Electronic] Switzerland
• PMID: 19407484 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2009 S. Karger AG, Basel.

Chemical References

• DNA
• Chymotrypsin
• chymotrypsin C

Topics

• Adult
• Age of Onset
• Amino Acid Substitution
• Asian People (genetics)
• Base Sequence
• Chymotrypsin (genetics)
• DNA (blood, genetics, isolation & purification)
• Exons
• Genetic Predisposition to Disease
• Genetic Variation
• Humans
• Introns (genetics)
• Mutation
• Pancreatitis, Chronic (enzymology, genetics)
• Polymorphism, Single Nucleotide
• Taiwan