The association between the functional SNP (rs3758549) in the promoter region of PITX3 gene and risk of Parkinson's disease (PD) remains controversial. The present study aimed at investigating the pooled association using a meta-analysis on the published studies. A total of nine studies (comprising 4054 cases and 3949 controls) which were in English before September 2013 were involved in this updated and refined meta-analysis. Subgroup analysis was performed in different ethnicity and onset age-matched groups. The results of meta-analysis suggested that the PITX3 SNP rs3758549 was significantly associated with risk of PD in the Asian population (genotype TT+TC vs. CC, P=0.014; allele T vs. C, P=0.019) but not in the Caucasian population (genotype TT+TC vs. CC, P=0.053; allele T vs. C, P=0.251). Analysis of early-onset PD (EOPD) and late-onset PD (LOPD) in the Asian population revealed that rs3758549 was more common in EOPD populations (TT+TC vs. CC, P=0.040; T vs. C, P=0.004). In conclusion, our results indicated that the SNP rs3758549 might contribute to the occurrence of PD in the Asian population, especially EOPD in the Asian population.
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