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All Journal Indonesian Journal of Medical Chemistry and Bioinformatics
Wahyudi, Dian Tri
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Chemistry Computer Science & IT

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Evaluation of the DHCR7/NADSYN1 rs4944946 Variant and Breast Cancer Susceptibility: A Case-Control Study in an Indonesian Cohort Wahyudi, Dian Tri; Paramita, Rafika Indah; Panigoro, Sonar Soni
Indonesian Journal of Medical Chemistry and Bioinformatics
Publisher : UI Scholars Hub

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Abstract

Background: The rs4944946 variant, located in the 5’UTR of the DHCR7 gene and upstream of NADSYN1, is biologically implicated in vitamin D and cholesterol metabolism pathways closely linked to cancer pathogenesis. This study aimed to experimentally validate the association between the rs4944946 polymorphism and breast cancer susceptibility in an independent cohort of Indonesian women. Method: A case-control study was conducted involving 36 breast cancer patients and 39 healthy adult females. Genotyping of the rs4944946 variant was performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The genetic association was evaluated across codominant, dominant, and recessive models. Luminal B was the predominant molecular subtype (36.1%) within the case group. Results: Validation results demonstrated no significant association between the rs4944946 variant and breast cancer susceptibility across all tested genetic models. The discordance between our validation cohort and prior in silico predictions is likely attributable to the low frequency of the mutant allele, limited sample size, and the "winner’s curse" phenomenon. Furthermore, technical constraints inherent to PCR-RFLP, such as the risk of incomplete enzymatic digestion, may have influenced genotyping accuracy. Conclusion: This experimental validation did not establish a significant association between the rs4944946 variant and breast cancer in the studied cohort. Future multicenter studies utilizing larger cohorts and more advanced, precise genotyping technologies (e.g., Next-Generation Sequencing) are required to definitively determine the clinical significance of this variant.
Co-Authors Paramita, Rafika Indah Sonar Panigoro