A functional insertion/deletion polymorphism (-94 ins/del ATTG) in the promoter region of the NFKB1 gene is related to the risk of renal cell carcinoma

Abstract

Objective: Activated nuclear factor-ĸB is associated with the pathogenesis of numerous malignancies, including renal cell carcinoma (RCC). This study aimed to clarify the influence of a common insertion/deletion polymorphism (-94 ins/del ATTG, rs28362491) in the NFKB1 promoter on RCC susceptibility.

Methods: We genotyped the NFKB1 -94 ins/del ATTG promoter polymorphism by the TaqMan method and assessed the association with RCC risk, clinicopathological parameters in a case-control study of 1,027 cases and 1,094 controls.

Results: The genotype frequencies were significantly different between RCC cases and controls (p = 0.046). Compared with individuals carrying the ins/del + del/del genotypes, those with the ins/ins genotype had an increased RCC risk [p = 0.036, adjusted odds ratio (OR) = 1.23, 95% confidence interval (CI) = 1.02-1.48], particularly in the subgroup of younger age (p = 0.005, adjusted OR = 1.42, 95% CI = 1.11-1.83) and never smokers (p = 0.013, adjusted OR = 1.34, 95% CI = 1.07-1.69). Furthermore, the polymorphism was significantly associated with the risk of developing localized stage RCC (p = 0.020, OR = 1.26, 95% CI = 1.04-1.53).

Conclusions: The functional NFKB1 promoter polymorphism is associated with an increased risk of RCC.