Purpose: Cyclin D1 (CCND1) mRNA is alternatively spliced to produce 2 transcripts (transcript-a and transcript-b), which may be modulated by a G870A single nucleotide polymorphism at the conserved splice donor site of exon 4. Previous studies have suggested a significant association between the CCND1 genotype and the development of various cancers. We explored the possible association between this polymorphism and the onset or disease statue of sporadic renal cell carcinoma (RCC).
Materials and methods: The CCND1 G870A genotype was determined in 191 RCC cases and in 400 controls by polymerase chain reaction restriction length polymorphism analysis.
Results: Subjects with the AA genotype were at 1.70-fold significant higher risk for RCC than those with the GG genotype (age and sex adjusted OR 1.70, 95% 95% CI 1.03 to 2.82, p = 0.039). In addition, the A allele had a gene dose effect in increasing the risk of RCC (adjusted OR 1.30, 95% CI 1.01 to 1.67, p = 0.045). For tumor stage no significant difference in genotype frequency was found (p = 0.646).
Conclusions: These data suggest that the CCND1 variant A allele may be a genetic susceptibility factor with a recessive or gene dose effect for the onset of sporadic RCC. More extensive and larger studies are required to clarify whether the CCND1 genotype is more specifically involved in the onset of a histological subset of RCC or RCC at a younger age.