Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2025
Sequence analysis of the 5' region of the chymotrypsin C (CTRC) gene in chronic pancreatitis.
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Karamya Zain A, Stefanovics Regina, Sándor Máté, Madarász Réka, Nagy Adrienn, Szentesi Andrea, Hegyi Péter, Czakó László, Németh Balázs Csaba
Аннотация
BACKGROUND/OBJECTIVES: Loss-of-function chymotrypsin C (CTRC) variants increase the risk for chronic pancreatitis (CP) by reducing protective pancreatic CTRC activity. Variants in the 5' upstream region that includes the promoter might affect CTRC expression but have not been investigated to date. The aim of the present study was to address this knowledge gap.
METHODS: We analyzed ∼1.4 kb of the 5' region of the CTRC gene in 293 patients with chronic pancreatitis of alcoholic and non-alcoholic etiology and 402 controls from the Hungarian National Pancreas Registry by direct Sanger sequencing.
RESULTS: We identified 14 gene variants, which included 11 novel variants and 3 previously reported variants. When allele frequencies were considered, none of the variants were significantly overrepresented in CP cases or controls. Genotype distribution of the frequently occurring variant c.-913A>G showed a statistically significant enrichment of the homozygous GG genotype (versus the AA genotype) in CP cases versus controls (OR 1.67, 95 % CI 1.2-2.4, P 0.0053). However, the disease association was driven by the linkage disequilibrium with the known CTRC risk variant c.180C>T.
CONCLUSIONS: We found no significant association between variants in the 5' region of the CTRC gene and CP risk.
METHODS: We analyzed ∼1.4 kb of the 5' region of the CTRC gene in 293 patients with chronic pancreatitis of alcoholic and non-alcoholic etiology and 402 controls from the Hungarian National Pancreas Registry by direct Sanger sequencing.
RESULTS: We identified 14 gene variants, which included 11 novel variants and 3 previously reported variants. When allele frequencies were considered, none of the variants were significantly overrepresented in CP cases or controls. Genotype distribution of the frequently occurring variant c.-913A>G showed a statistically significant enrichment of the homozygous GG genotype (versus the AA genotype) in CP cases versus controls (OR 1.67, 95 % CI 1.2-2.4, P 0.0053). However, the disease association was driven by the linkage disequilibrium with the known CTRC risk variant c.180C>T.
CONCLUSIONS: We found no significant association between variants in the 5' region of the CTRC gene and CP risk.