Ontology highlight
ABSTRACT:
SUBMITTER: Wang L
PROVIDER: S-EPMC4464794 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Wang Liyong L Nuytemans Karen K Bademci Guney G Jauregui Cherylyn C Martin Eden R ER Scott William K WK Vance Jeffery M JM Zuchner Stephan S
Human mutation 20130528 8
A high density comparative genomic hybridization array was designed to evaluate CNVs in the genomic region of six familial PD genes in 181 PD cases and 67 controls. No CNV was found in PARK7, ATP13A2, PINK1, and LRRK2. Intronic-only CNVs were found in SNCA and PARK2 but were not associated with PD risk. A whole-gene duplication of SNCA was found in one case. The allele frequency of PARK2 exonic CNV is significantly higher in cases than in controls (P = 0.02), higher in early-onset (AAO ≤ 40) tha ...[more]