rs823128

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.

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

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.

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.