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Analysis of the association of rs1333049-polymorphic variants of the ANRIL gene with the development of clear cell renal cel carcinoma in Ukrainian population

Wiad Lek. 2025;78(9):1805-1812. doi: 10.36740/WLek/204031.

ABSTRACT

OBJECTIVE: Aim: The study aimed to assess the association between rs1333049 polymorphic variants of the ANRIL gene and the development of clear cell renal cel carcinoma in the Ukrainian population.

PATIENTS AND METHODS: Materials and Methods: Venous blood from 201 individuals was analyzed, including 101 ccRCC patients (42 women, 59 men) and 100 cancer-free controls (34 women, 66 men). ANRIL rs1333049 genotyping was performed using real-time PCR, with statistical analysis conducted via Prism (v10.4.1) and R (v4.4.2).

RESULTS: Results: The rs1333049 genotype distribution in ccRCC patients was GG – 16 (15.8%), GC – 50 (49.5%), CC – 35 (34.7%); in controls: 28 (28%), 49 (49%), 23 (23%) (P=0.0561). The C allele was more frequent in ccRCC patients (P=0.0167). In the dominant model, GC+CC carriers had a 2.066-fold higher risk than GG homozygotes (P=0.0392). No genotype differences were found between sexes in controls (P=0.39), but allele distribution differed in male and female ccRCC patients (P=0.0105). In the recessive model, males with CC had a 2.5-fold higher ccRCC risk (P=0.02). Kaplan-Meier analysis found no effect of rs1333049 on overall survival.

CONCLUSION: Conclusions: The rs1333049 polymorphism of the ANRIL gene increases ccRCC risk. GC and CC genotypes raise risk 2.07-fold (P=0.0392), up to 3.1-fold (P=0.040) after adjustments. In males, CC genotype increases risk 2.5-fold (P=0.02) and 3.12-fold (P=0.05) after adjustments. No link to overall survival was found (P=0.4321).

PMID:41160859 | DOI:10.36740/WLek/204031

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