Analysis of Pancreatic Cancer Genetic Risk Factors in a Multi-Ethnic Population Sample
Abdullah Al-Qahtani1, Ali Al-Ali2,3, Bency John4
1Undergraduate Medical Program, College of Medicine, Kuwait University, Jabriya, Kuwait.
World Journal of Oncology
|September 27, 2024
Summary
Genetic variants in ABO and VDR are associated with pancreatic ductal adenocarcinoma (PDAC) risk in the Kuwaiti population. These findings highlight the role of ethnicity in PDAC genetic risk estimation and prediction potential.
Area of Science:
- Genetics
- Oncology
- Epidemiology
Background:
- Pancreatic cancer (PC) has a high mortality-to-incidence ratio.
- Early identification of at-risk individuals is crucial for timely diagnosis.
- Genome-wide association studies have identified genetic variants linked to PC risk across diverse populations.
Purpose of the Study:
- To investigate the association of specific genetic variants with pancreatic cancer risk in a Kuwaiti population sample.
- To examine the role of ethnicity in the association of known genetic risk factors for pancreatic cancer.
- To assess the potential of these genetic factors for predicting pancreatic cancer risk.
Main Methods:
- Genotyping of 103 pancreatic ductal adenocarcinoma (PDAC) specimens and 132 healthy controls.
- TaqMan genotyping assays were used for variants in ABO, BCAR1, LINC-PINT, HNF1B, VDR, and PRSS1.
- VDR expression levels were assessed using immunocytochemistry.
Main Results:
- The ABO rs505922C and VDR rs2228570A variants were significantly associated with PDAC risk.
- A polygenic risk score combining ABO, BCAR1, LINC-PINT, and HNF1B variants was also significantly associated with PDAC risk.
- VDR expression was found to be downregulated or absent in most PDAC specimens, irrespective of VDR haplotype.
Conclusions:
- ABO rs505922C and VDR rs2228570A are identified as genetic risk factors for PDAC in the studied population.
- Ethnicity impacts the association of genetic PDAC risk factors, necessitating adjustments in risk estimations.
- Further research in diverse ethnic groups is essential to validate the predictive potential of these genetic risk factors for PDAC.
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