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- W4214657318 abstract "Recessive mutations in PRKN, PARK7 and PINK1 are established causes of early-onset Parkinson's disease (EOPD). Previous studies have interrogated the role of heterozygous variants in these genes but mainly focused on rare (minor allele frequency [MAF] <1%) damaging variants or established mutations. Here, we assessed heterozygous private PRKN, PARK7 and PINK1 variants in PD risk in four large-scale PD case-control datasets by performing gene-wise burden analyses using sequencing data totaling 5,831 PD cases and 7,221 controls, and summary allele counts from 9,506 PD cases and 48,207 controls. Results showed no significant burden in all three genes after meta-analyses. Burden in EOPD (age at onset <50 years) and late-onset PD (≥50 years) remained nonsignificant. In summary, we found no evidence to support the association of the excess burden of heterozygous private variants in PRKN, PARK7, and PINK1 with PD risk in the European population. Larger, more diverse cohorts are needed to accurately determine their role in PD." @default.
- W4214657318 created "2022-03-02" @default.
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- W4214657318 date "2022-02-27" @default.
- W4214657318 modified "2023-10-18" @default.
- W4214657318 title "Assessment of private variants in PRKN, PARK7 and PINK1 in Parkinson's disease" @default.
- W4214657318 doi "https://doi.org/10.1101/2022.02.18.22269402" @default.
- W4214657318 hasPublicationYear "2022" @default.
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