Association of Novel Chymotrypsin C Gene Variations and Haplotypes in Patients with Chronic Pancreatitis in Chinese in Taiwan

Background/Aims: Variations and haplotypes of thechymotrypsin 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.