Association Study Of Polymorphisms In The GNAS1 T393C And Renal Clear Cell Carcinoma

OBJECTIVE: To analyze the relationship between T393C polymorphism of GNAS1 (guanine nucleotide-binding protein,α-stimulating activity polypeptide 1) T393C and renal clear cell carcinoma(RCCC),and to make clear whether GNAS1 T393C is a risk factor for RCCC.METHODS: The study subjects comprised 42 cases with RCCC who had undergone radical nephrectomy in The General hospital Lanzhou, PLA. And the control group consisted of 33 cases healthy individuals who were randomly collected at the People's hospital of Gansu Province. T393C polymorphism of GNAS1 was determined by polymerase chain reaction with restriction fragment length polymorphism.RESULTS: In the present study, 25 subjects (33.3%) were homozygous for the T allele(TT), 38 subjects(50.7%) were heterozygous(TC) and 12 subject( 16.0%) were homozygous for the C allele(CC). The frequency of T allele was 88(58.7%) and the frequency of C allele was 62(41.3%). The frequencies of genotype and allele in both the two groups were in Hardy-Weinberg equilibrium. (1)TT genotypes were 18 (42.9%) in RCCC group significantly more than which 7(21.2%) in the control group compared both with TC or CC genotypes(P<0.05). (2)CC genotypes in RCCC group had no significant more than which in the control group compared both with TC or TT genotypes (P>0.05). (3) The GNAS1 T393C polymorphism isn't significantly associated with RCCC stage and grade (P>0.05).CONCLUSIONS: Our results show that GNAS1 T393C polymorphism is associated with human RCCC. Homozygous TT may be the risk factor for RCCC in control group compared both with TC or CC genotypes. GNAS1 T393C polymorphism may be the good indicator for evaluation the prognosis of RCCC.