rs1803274

This study examined BCHE gene variability in two Amerindian populations (Kaingang and Guarani-Mbya from Brazil) by analyzing seven SNPs (two upstream, three within, two downstream of BCHE). Amerindians showed lower BCHE variant frequencies than other populations. Key findings included absence of the 116A variant (rs1126680) in Amerindians, presence of the K allele (539T, rs1803274), and three SNPs (rs3495, rs7624915, rs4387996) showing ancestral allele frequency patterns decreasing from Africa toward the Americas. Despite geographical proximity, Kaingang and Guarani retained >90% ancestral genetic constitution, demonstrating cultural and social isolation maintained genetic identity.

This case-control study examined four SNPs in cholinergic system genes (AChE rs2571598, BChE rs1355534, BChE rs1803274, and ChAT rs2177369) in 471 late-onset Alzheimer's disease (LOAD) patients and 254 controls from Northern Italy. Only ChAT rs2177369 showed a significant association with AD onset, with the G/G genotype conferring increased risk (OR = 1.56; 95% CI 1.10-2.22; P = 0.01). Among treated patients (n=171), no consistent associations between SNP genotypes and response to Donepezil or Rivastigmine were observed, though the AChE rs2571598 A/A genotype showed a trend toward better response to Rivastigmine.