rs11240572
This variant is located in the PM20D1 gene.
▶Research that mentions this SNP (2)
▶PARK16 is associated with PD in the Malaysian populationAssociationN=1,144Aroma Agape Gopalai et al.(2016)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Case-control study (730 cases, 414 controls) in Malaysian population testing five PARK16 SNPs for Parkinson's disease association. The A allele of rs947211 reduced PD risk under a recessive model (OR=0.57, P=0.0003). Meta-analysis pooling with other Asian cohorts (total 5,250 individuals) confirmed protective associations for rs947211, rs823128, rs823156, and rs11240572, contrasting with the original Japanese PARK16 discovery study.
▶Association of GWAS loci with PD in ChinaAssociationN=1,146Xue‐Li Chang et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Case-control study of 636 Parkinson's disease patients and 510 controls from mainland China investigating SNPs at four genome-wide association study loci. SNCA (rs894278, OR=1.33) and LRRK2 (rs2046932, OR=1.98) variants increased PD risk, while PARK16 variants (rs823156, OR=0.73; rs6532194, OR=0.60) reduced risk. BST1 SNPs showed no significant association.
About PM20D1
Enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including amide biosynthetic process; amide catabolic process; and amino acid metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
View all PM20D1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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