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Vol. 2 · Issue 1 · 2026 Jan 31, 2026 Articles

The Association of CYP1A1 rs1048943 PolymorphismA Comprehensive Meta-Analysis of Case Control Studies

S
Ms. Qudsia Hijab Corresponding Student qudsiashah2001@gmail.com Pakistan
Pages35-56 PublishedJan 31, 2026 LicenseOpen Access
Article
Vol. 2 No. 1 (2026)
VOL 2 · NO 1 · 2026 View issue

Abstract

Breast cancer remains the most prevalent malignancy in women worldwide and its etiology involves genetic and environmental components. Among these genetic components, the CYP1A1 rs1048943 (Ile462Val) polymorphism has been shown to play a modifying role in breast cancer susceptibility based on its contribution to the metabolism of carcinogens and estrogens. This meta-analysis objectively estimated the risk association of this polymorphism and breast cancer in 34 case-control studies including 14,166 cases and 18,912 controls Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated under various genetic models. The dominant model (GG+GA vs. AA) revealed a significant association with breast cancer risk in the overall population (OR = 1.1533, 95% CI: 1.0038–1.3250, p = 0.044). Subgroup analysis by ethnicity showed a stronger effect in Asian populations (OR = 1.2742, 95% CI: 1.0123–1.6038, p = 0.039), while a protective effect was observed in Caucasians (OR = 0.8843, 95% CI: 0.7837–0.9979, p = 0.046). Other genetic models, including the allele contrast, recessive, over dominant, and homozygote comparisons, did not show statistically significant associations in the overall analysis. Sensitivity analyses confirmed the consistency of findings, stability of the dominant model results, and no major publication bias was detected. These findings suggest that the CYP1A1 rs1048943 polymorphism may be associated with breast cancer susceptibility, particularly among Asian populations, while ethnic differences may influence its effect.

Keywords

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