Genetic association study between ? 1-antichymotrypsin polymorphism and Alzheimer disease in Chinese Han population

Abstract

We investigated a common signal peptide polymorphism in the alpha 1-antichymotrypsin (ACT) gene in 125 sporadic Alzheimer disease (AD) patients and 141 healthy control subjects in Chinese Han population. We found no significant difference in the distribution of ACT polymorphism between AD cases and controls, and failed to detect any effects of ACT genotypes associated with AD. Thus, our data do not support the involvement of ACT polymorphism in the risk of AD in Chinese Han population. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:133-135, 2000.

ACT and UCH‐L1 polymorphisms in Parkinson's disease and age of onset

“…The Hardy‐Weinberg equilibrium test of the ACT and UCH‐L1 S18Y polymorphisms showed that all subgroups of both patients and control subjects were in equilibrium. The distribution of genotypes associated with the ACT polymorphism corresponded to that observed in other Chinese populations 13, 27. The distribution of the ACT and UCH‐L1 genotypes and alleles in cases and controls are listed in Table 1 and Table 2.…”

Meta-analysis of genetic variability in the ?-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer?s disease

“…Twenty‐seven case–control studies have analysed the relationship between polymorphism in codon 17 of an ACT gene and AD (46, 48–73), accounting for 7462 cases and 7092 controls (Table 2). Only one study (64) had controls in Hardy–Weinberg disequilibrium.…”

“…a complete 2 × 2 table). From genes listed in Table 1, we performed meta‐analyses on the following polymorphisms, as the relationship between these genes and AD risk had been investigated in three or more independent studies and no meta‐analysis on them had been previously published: BACE1 exon 5 (nine studies in eight papers) (13–20); BACE1 intron 5 (three studies) (14, 16, 18); FE65 intron 13 (six studies) (21–26); CYP46 (13 studies in 12 papers) (27–38); OLR1 3′‐UTR (+1073) (five studies in four articles) (39–42); OLR1 3′‐UTR (+1071) (four studies in three papers) (40–42); VLDLR 5′‐UTR (CGG‐repeat) (six studies) (43–48); ACT Ala17Thr (27 studies) (46, 48–73); and BH I443V (six studies) (25, 74–78). Sixty of 66 studies were found in MEDLINE and 54 out of 66 in EMBASE; 48 papers were found in both databases.…”

Genetic study of Apolipoprotein E gene, alpha‐1 antichymotrypsin gene in sporadic Parkinson disease

“…The combination of the AA genotype of the alpha‐1 antichymotrypsin (ACT) gene and the apolipoprotein E (apoE) ε4/ε4 genotype has been suggested in the susceptibility to AD [Kamboh et al, 1995], but not in the Chinese Han population [Tang et al, 2000]. In the present study, we investigated these two variants in a sample of 68 PD cases and 160 age matched healthy subjects in Shanghai China.…”