A pilot case-control study exploring the association of the XPC Lys939Gln (rs2228001) polymorphism and metabolic risk factors with pancreatic cancer in an Algerian cohort
DOI:
https://doi.org/10.2298/ABS260412008HKeywords:
pancreatic cancer, XPC rs2228001, DNA repair, type 2 diabetes mellitus, Algerian populationAbstract
Paper description:
- This is an exploratory pilot case-control study of XPC rs2228001 in pancreatic cancer in an Algerian patient cohort.
- No statistically significant association was detected under study constraints. Type 2 diabetes mellitus (T2DM) was more frequent among cases; causal direction remains uncertain.
- The findings are preliminary and hypothesis-generating.
- Further studies in larger cohorts are needed to explore gene-environment interactions.
Abstract: The role of DNA repair gene polymorphisms in pancreatic cancer susceptibility remains insufficiently characterized, particularly in North African populations. This study investigated the association between the XPC Lys939Gln (rs2228001) polymorphism and pancreatic cancer risk in an Algerian cohort, alongside key metabolic risk factors. This exploratory hospital-based case-control study included 40 patients with histologically confirmed pancreatic cancer and 120 age- and sex-matched controls. Genotyping was performed using PCR-RFLP. Associations were evaluated using logistic regression models adjusted for demographic and metabolic variables. Given the limited sample size, the study was not powered to detect modest genetic effects. No statistically significant association was observed between XPC rs2228001 and pancreatic cancer risk under dominant, recessive, or allelic models (adjusted OR=1.22, 95% CI: 0.27-5.52; P=0.801). Type 2 diabetes mellitus was more frequent among cases and was associated with increased risk (OR=3.48, 95% CI: 1.24-9.77; P=0.018), although this finding should be interpreted with caution. The lower BMI observed in cases likely reflects disease-related weight loss. Under the constraints of this exploratory pilot investigation, no statistically detectable association was observed for the XPC rs2228001 variant. These findings are preliminary and should be considered hypothesis-generating. Larger, well-designed studies are required to clarify the interplay between genetic variation and metabolic factors in pancreatic cancer susceptibility.
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