Sequence analysis of the 5′ region of the chymotrypsin C (CTRC) gene in chronic pancreatitis

IF 2.8 2区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY

Pancreatology Pub Date : 2025-02-01 DOI:10.1016/j.pan.2024.12.020

Zain A. Karamya , Regina Stefanovics , Máté Sándor , Réka Madarász , Adrienn Nagy , Andrea Szentesi , Péter Hegyi , László Czakó , Balázs Csaba Németh

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引用次数: 0

Abstract

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.

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来源期刊

Pancreatology 医学-胃肠肝病学

CiteScore

7.20

自引率

5.60%

发文量

194

审稿时长

44 days

期刊介绍： Pancreatology is the official journal of the International Association of Pancreatology (IAP), the European Pancreatic Club (EPC) and several national societies and study groups around the world. Dedicated to the understanding and treatment of exocrine as well as endocrine pancreatic disease, this multidisciplinary periodical publishes original basic, translational and clinical pancreatic research from a range of fields including gastroenterology, oncology, surgery, pharmacology, cellular and molecular biology as well as endocrinology, immunology and epidemiology. Readers can expect to gain new insights into pancreatic physiology and into the pathogenesis, diagnosis, therapeutic approaches and prognosis of pancreatic diseases. The journal features original articles, case reports, consensus guidelines and topical, cutting edge reviews, thus representing a source of valuable, novel information for clinical and basic researchers alike.