rs823156

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.

This is a German dissertation containing two peer-reviewed association studies on Parkinson's disease genetics. The first study found EIF4G1 is neither a strong nor common PD risk factor in European cohorts (2146 patients), with the p.Arg1205His variant showing no significant association (OR=1.3, p=0.50) in Icelandic population. The second study demonstrated heterozygous PARK2 CNV carriers have increased PD risk in Iceland (1415 cases vs 40474 controls, OR=1.7, p=0.03), supported by meta-analysis.

German doctoral dissertation investigating genetic risk factors for Parkinson's disease in the Icelandic population. The thesis comprises three studies: (1) Analysis of EIF4G1 gene mutations (p.Ala502Val, p.Arg1205His) in 2,146 European PD patients and 93,698 Icelandic samples showing EIF4G1 is neither a strong nor common risk factor; (2) Case-control study of PARK2 copy number variants in 1,415 PD patients versus 40,474 controls (≥65 years) demonstrating heterozygous PARK2 CNV carriers have significantly increased PD risk (OR=1.69, p=0.03); (3) Investigation of common genetic PD risk variants' effects on LRRK2 G2019S mutation carriers.

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.

This replication study of 1,445 Parkinson's disease patients and 1,161 controls from Northern Spain confirms MAPT (rs1800547, p=3.1×10⁻⁴, OR=0.79) and SNCA (rs356219, p=5.5×10⁻⁴, OR=1.23) as PD susceptibility genes, but fails to replicate PARK16, PARK17, and PARK18 loci (p values 0.09-0.88). The findings suggest that PARK16-18 may harbor population-specific effects or require larger sample sizes for detection in European-derived populations.

Literature review of 77 publications examining the effects of genes COMT, MAO-A, MAO-B, DAT, DRD2, VMAT2, TPH2, and SNCA on Parkinson's disease neuropsychiatric symptoms and therapy response. Key polymorphisms include rs1800497 (DRD2) associated with impulse control disorders, rs6269/rs4633/rs4818/rs4680 (COMT) with cognitive decline, and rs1352250/rs6582078 (TPH2) with impulse control. The review identifies genetic predictors for early complications (cognitive decline, depression, psychosis, impulse control disorders) and therapy optimization, relevant for patient selection for deep brain stimulation.

Large European association study evaluating EIF4G1 mutations in Parkinson's disease across 2,146 PD patients and 93,698 Icelandic population samples. The p.Arg1205His variant (rs112176450) showed no significant association with PD risk (OR=1.3, p=0.50), and p.Ala502Val was not detected. The study concludes EIF4G1 is neither a strong nor common PD risk factor and should not be recommended for clinical diagnostic testing.