Results in this study revealed that the rs1721100(C/G) polymorphism is a risk factor for PD in Han Chinese population, while rs12720208(C/T) polymorphism is not significantly associated with PD.
We discovered a highly significant association of PD with one intronic SNP, rs1989754 (P=.0006), and two SNPs, rs1721100 (P=.02) and ss20399075 (P=.0008), located in the 3' regulatory region in our overall sample.
We observed statistically significant differences in genotypic and allelic frequencies of rs1721100 between PD cases and controls but not for rs12720208.
The meta-analysis showed an association between FGF20 gene rs1721100 polymorphism and risk of Parkinson's disease under a recessive model (GG versus CG+GG; OR = 1.15, 95 % CI 1.02-1.29, p = 0.02) but not under a dominant model (CG+GG versus CC; OR = 1.03, 95 % CI 0.93-1.13, p = 0.57).
In order to clarify the association between the FGF20 gene and Parkinson's disease, we attempted to replicate this association by a case-control association study using a large number of Japanese samples (1388 patients and 1891 controls). rs1721100 exhibited a significant difference in allele C versus G (P=0.0089), and in genotype CC+CG versus GG (P=0.0053).