Genetic variants of the PITX3 gene are not associated with late-onset sporadic Parkinson's disease in a Chinese population

► PITX3 is a good candidate gene for Parkinson's disease (PD). ► Three PITX3 SNPs are reported to be associated with PD. ► The associations of these three PITX3 SNPs with PD were examined in Chinese. ► Allele and genotype frequencies did not differ between patients and controls. PITX3 is a transcription factor which determines the survival of dopaminergic neurons in the substantia nigra, and is considered a candidate gene for Parkinson's disease (PD). Recent association studies indicated that three PITX3 single nucleotide polymorphisms (SNPs), including rs2281983, rs4919621, and rs3758549 are likely to be associated with PD. However, no similar associations in Chinese populations have been reported. To examine the nature of the association in Chinese individuals we analyzed DNA samples for these three PITX3 SNPs from 509 late-onset sporadic PD patients, and 494 healthy controls, using a ligase detection reaction (LDR). Results indicated that allele and genotype frequencies did not differ between patients and controls for all three SNPs, suggesting that these SNP sites do not contribute to the risk of developing PD in late-onset sporadic PD in this Chinese population.