Detection of a new mutant α‐1‐antichymotrypsin in patients with occlusive‐cerebrovascular disease

Tsuda, Michio; Sei, Yukari; Yamamura, Masaichi; Yamamoto, Masahiro; Shinohara, Yukito

doi:10.1016/0014-5793(92)80590-d

Cited by 9 publications

(6 citation statements)

References 8 publications

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“…All the patients and controls were unrelated Japanese. DNA was extracted from peripheral leukocytes of each subject and genotyping was performed by PCR-RFLP according to published methods (Wenham et al, 1991;Tsuda et al, 1992;Kamboh et al, 1995). The primers and enzymes for each genotyping are shown in Table 1.…”

Section: Methodsmentioning

confidence: 99%

“…In fact, association studies of ACT polymorphism (Ala ~5 Thr) and AD in Caucasian populations have reported conflicting results (Kamboh et al, 1995;Thome et al, 1995;Talbot et al, 1996). Another common structural polymorphism of ACT, Met 389 ~ Val, has been reported to occur frequently in occlusive cerebrovascular disease (Tsuda et al, 1992), but its correlation with AD has not been investigated. The aim of this study was to determine whether these two polymorphisms of the ACT gene represent markers for AD, either alone or interacting with ApoE genotypes.…”

Section: Introductionmentioning

confidence: 98%

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?1-Antichymotrypsin gene polymorphism and risk for Alzheimer's disease

Muramatsu

Matsushita

Arai

et al. 1996

J. Neural Transmission

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alpha 1-Antichymotrypsin (ACT), a component of the senile plaque of the Alzheimer's disease (AD) brain, has a possible role as a molecular chaperone in developing AD pathology. This study was a search for the possible association of the two structural polymorphisms of ACT, Ala15-->Thr and Met389-->Val in the Japanese population. In 101 AD patients, genotype and allele frequencies of the two polymorphisms did not differ from those of 104 age-matched healthy controls. However, in those subjects in which the apolipoprotein epsilon 4 allele was absent, the frequency of the Ala15 homozygote was significantly higher in the AD patients than in controls. This suggests that the Ala15 homozygote state may be a susceptibility marker for AD, interacting with apolipoprotein E genotype.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

?1-Antichymotrypsin gene polymorphism and risk for Alzheimer's disease

Muramatsu

Matsushita

Arai

et al. 1996

J. Neural Transmission

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“…Genomic leukocyte DNA was used for DNA analyses, including polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and PCR-restriction fragment length polymorphism (PCR-RFLP), and DNA sequencing, as described previously (Tsuda et al 1992a;1992b).…”

Section: Methodsmentioning

confidence: 99%

“…Although the pathological and physiological roles of ACT are not established, it seems likely that qualitative change in ACT would result in specific diseases. We previously reported that a variant AACT (ACT Isehara-1, Met389Val, A1252G) was found frequently in patients with cerebrovascular disease (CVD) (Tsuda et al 1992a). The present study was designed to examine whether there is a direct association between ACT Isehara-1 and a particular subtype of symptomatic ischemic CVD.…”

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confidence: 99%

α-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease

et al. 2001

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α-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions, and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular disease (CVD). The present study was designed to examine the association of the variant with ischemic CVD, in 87 patients and 397 agematched controls. We found that the frequency of the A1252G variant (ACT Isehara-1) was higher in the group with ischemic CVD than in the control group (P ϭ 0.0397), which appeared to be independent of known risk factors. We subdivided the CVD group into lacunar and atherothrombotic subgroups. Further analysis by subtype of ischemic CVD showed an association of ACT Isehara-1 with lacunar infarction (P ϭ 0.0036). These results suggest that ACT Isehara-1 is a new genetic risk factor for ischemic CVD, especially lacunar-type infarction, in Japan.

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“…Key Words: a1-Antichymotrypsin-Dementia A1252G-PCR. Tsuda et al (1992) screened 95 individuals in a Japanese popUlation, which included healthy subjects (n = 32), individuals with AD (n = 6), and individuals with "occlusive-cerebrovascular" disease (n = 32). They identified six individuals carrying an A-to-G substitution at nucleotide base 1,252 (A1252G), which produces a Met � Val substitution at codon 389.…”

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confidence: 99%

Absence of the A1252G Mutation in α1-Antichymotrypsin in a North American Population Suffering from Dementia

Gilfix

Briones

1997

J Cereb Blood Flow Metab

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Associations have been reported between polymorphisms in the gene for alpha 1-antichymotrypsin (ACT) and both Alzheimer's disease (AD) and cerebrovascular disease. An A-to-G substitution at nucleotide position 1,252 of ACT that produces a methionine to valine substitution at codon 389 has been found previously in four of 32 individuals with cerebrovascular disease from a Japanese population. We genotyped 194 individuals [59 controls, 35 with non-AD-type dementia (primarily vascular) and 100 with Alzheimer's-type dementia] for this polymorphism and found none that carry this polymorphism. Therefore, the allelic association of the A1252G mutation of ACT with cerebrovascular disease may be confined to the Japanese population and is not generalizable to other populations.

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Detection of a new mutant α‐1‐antichymotrypsin in patients with occlusive‐cerebrovascular disease

Cited by 9 publications

References 8 publications

?1-Antichymotrypsin gene polymorphism and risk for Alzheimer's disease

?1-Antichymotrypsin gene polymorphism and risk for Alzheimer's disease

α-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease

Absence of the A1252G Mutation in α1-Antichymotrypsin in a North American Population Suffering from Dementia

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