Evaluation of FGF 20 variants for susceptibility to Parkinson’s disease in Eastern Indians

Abstract Background Parkinson’s disease (PD) is the second most common neurodegenerative disease and has a complex etiology. Single nucleotide polymorphisms in the 3′-untranslated region of Fibroblast growth factor 20 ( FGF 20 ) have been reported to be associated with PD; however, the results are controversial. Although FGF20 enhances the survival of dopaminergic neurons, it may also result in PD susceptibility by altering alpha-synuclein expression. Materials and methods To identify and characterize genetic risk variants in FGF 20 in Eastern Indian PD patients, 2 SNPs of FGF 20 (rs1721100 and rs2720208) were genotyped in 336 PD cases and 313 ethnically matched controls by PCR-RFLP. Results We observed statistically significant differences in genotypic and allelic frequencies of rs1721100 between PD cases and controls but not for rs12720208. Haplotype G-C showed a significant protective effect against PD. A functional assay revealed that the risk allele C at rs1721100 has little or no effect on relative luciferase activity from a reporter construct in the presence of mi R -3189-3p, whereas allele G results in significant dose-dependent reduction. Conclusion Our results suggest that FGF 20 is a susceptibility gene for PD in Eastern Indians.