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The aim of the current study was to determine the correlation between the G2385R polymorphism of the LRRK2 gene and Parkinson's disease (PD) and the differences in genotypic and allelic frequencies between the Uyghur and Han Chinese populations. A case-control study was performed in which the genotypic and allelic frequencies of the LRRK2 gene G2385R polymorphism were analyzed using a polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. Results showed the frequency of the GG genotype to be the highest, whereas that of the GA-type heterozygote was the lowest. No AA genotype was identified. The frequency of the GA genotype among Han patients was higher compared with that of the control group. Han individuals who carry the A allele have a higher risk of PD than non-carriers. In the present study, the frequencies of the GA genotype and A allele among Han patients were found to be higher compared with those in the Uyghur group. Moreover, Han individuals who carry the A allele exhibited a higher risk of PD than the Uyghur individuals. No statistically significant differences in genotypic and allelic frequencies were observed between the control and PD groups who were &gt;50 years of age. The risk of PD was higher among individuals carrying the A allele than among non-carriers. The PD (≤50 years of age), the male and the female groups were compared with the control group, but no statistically significant differences were identified in allelic or genotypic frequencies. The genotypic and allelic frequencies of the LRRK2 gene G2385R polymorphism between the Uyghur and Han populations were significantly different. The A allele of the LRRK2 gene G2385R polymorphism is correlated with an increased risk of PD, particularly at an age of ≥50 years.

Correlation between LRRK2 gene G2385R polymorphisms and Parkinson’s disease