Mendelian randomisation study of the effects of known and putative risk factors on pancreatic cancer

J Med Genet. 2020 Dec;57(12):820-828. doi: 10.1136/jmedgenet-2019-106200. Epub 2020 Feb 17.

Abstract

Background: Observational studies have reported multiple risk factors for pancreatic ductal adenocarcinoma (PDAC). Some are well established, like tobacco smoking, alcohol drinking, obesity and type 2 diabetes, whereas some others are putative, such as allergy and dietary factors. Identifying causal risk factors can help establishing those that can be targeted to contribute to prevent PDAC.

Objective: We sought to investigate the possible causal effects of established and putative factors on PDAC risk.

Methods: We conducted a two-sample Mendelian randomisation (MR) study using publicly available data for genetic variants associated with the factors of interest, and summary genetic data from genome-wide association studies of the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including in total 8769 cases and 7055 controls. Causality was assessed using inverse-variance weighted, MR-Egger regression and weighted median methods, complemented with sensitivity and radial MR analyses.

Results: We found evidence for a causal effect of body mass index (BMI) on PDAC risk (OR 1.43, 95% CI 1.20 to 1.71, p=8.43×10-5). Fasting insulin (OR 2.84, 95% CI 1.23 to 6.56, p=0.01), low-density lipoprotein cholesterol (OR 1.16, 95% CI 1.02 to 1.32, p=0.03) and type 2 diabetes (OR 1.09, 95% CI 1.01 to 1.17, p=0.02) were also causally associated with PDAC risk. BMI showed both direct and fasting insulin-mediated causal effects.

Conclusion: We found strong evidence that BMI is causally associated with PDAC risk, providing support that obesity management may be a potential prevention strategy for reducing pancreatic cancer risk while fasting insulin and type 2 diabetes showed a suggestive association that should be further investigated.

Keywords: Mendelian randomization; genetic polymorphisms; pancreatic cancer; risk factors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Adult
  • Aged
  • Body Mass Index
  • Carcinoma, Pancreatic Ductal / complications
  • Carcinoma, Pancreatic Ductal / genetics*
  • Carcinoma, Pancreatic Ductal / pathology
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / pathology
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Helicobacter Infections / complications
  • Helicobacter Infections / genetics
  • Helicobacter Infections / pathology
  • Humans
  • Insulin / genetics
  • Male
  • Mendelian Randomization Analysis
  • Middle Aged
  • Obesity / complications
  • Obesity / genetics
  • Obesity / pathology
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors

Substances

  • Insulin