A common CCK-B receptor intronic variant in pancreatic adenocarcinoma in a hungarian cohort

Anita Balázs, Balázs Csaba Németh, Balázs Ördög, Eszter Hegyi, István Hritz, László Czakó, József Czimmer, Szilárd Gódi, Adrienn Csiszkó, Zoltán Rakonczay, Andrea Párniczky, Ferenc Izbéki, Adrienn Halász, Zsuzsanna Kahán, Péter Hegyi, Miklós Sahin-Tóth

Research output: Contribution to journalArticle

Abstract

Objectives: Variant c.811+32C>A in intron 4 of the cholecystokinin-B receptor gene (CCKBR) was reported to correlate with higher pancreatic cancer risk and poorer survival. The variant was suggested to induce retention of intron 4, resulting in a new splice form with enhanced receptor activity. Our objective was to validate the c.811+32C>A variant as an emerging biomarker for pancreatic cancer risk and prognosis. Methods: We genotyped variant c.811+32C>A in 122 pancreatic adenocarcinoma case patients and 106 control subjects by sequencing and examined its association with cancer risk and patient survival. We tested the functional effect of variant c.811+32C>A on pre-messenger RNA splicing in human embryonic kidney 293T and Capan-1 cells transfected with CCKBR minigenes. Results: The allele frequency of the variant was similar between patients and control subjects (18.4% and 17.9%, respectively). Survival analysis showed no significant difference between median survival of patients with the C/C genotype (266 days) and patients with the A/C or A/A genotypes (257 days). CCKBR minigenes with or without variant c.811+32C>A exhibited no difference in expression of the intron-retaining splice variant. Conclusion: These data indicate that variant c.811+32C>A in CCKBR does not have a significant impact on pancreatic cancer risk or survival in a Hungarian cohort.

Original languageEnglish
Pages (from-to)541-545
Number of pages5
JournalPancreas
Volume45
Issue number4
DOIs
Publication statusPublished - Mar 4 2016

Keywords

  • Alternative splicing
  • CCK-B receptor
  • Genetic risk factor
  • Pancreatic adenocarcinoma
  • Survival

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Endocrinology

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  • Cite this

    Balázs, A., Németh, B. C., Ördög, B., Hegyi, E., Hritz, I., Czakó, L., Czimmer, J., Gódi, S., Csiszkó, A., Rakonczay, Z., Párniczky, A., Izbéki, F., Halász, A., Kahán, Z., Hegyi, P., & Sahin-Tóth, M. (2016). A common CCK-B receptor intronic variant in pancreatic adenocarcinoma in a hungarian cohort. Pancreas, 45(4), 541-545. https://doi.org/10.1097/MPA.0000000000000539