Choline Acetyltransferase 유전자 다형성이 경도인지손상 발현에 미치는 영향
The Impact of Choline Acetyltransferase Polymorphism on the Expression of Mild Cognitive Impairment
2
조회
0
다운로드
0
인용
0
참고문헌
초록
objectives：The potential association between choline acetyltransferase(CHAT) polymorphism and the risk of mild cognitive impairment(MCI) has not been investigated in Korea. We examined the main effect of CHAT polymorphism and its interaction with apolipoprotein E(APOE) polymorphism in the development of MCI in elderly Korean sample. Methods：We analyzed CHAT 2384G > A polymorphism and APOE polymorphism among 149 MCI subjects with MCI and 298 normal controls. We tested the association between MCI and CHAT A allele status using a logistic regression model. In addition, we employed generalized multifactor dimensionality reduction(GMDR) to investigate the interaction between CHAT and APOE with regard to the risk of MCI.Results：The CHAT A allele was associated with AD risk(OR = 1.59, 95% CI = 1.02-2.48, p = 0.042). No sig-nificant gene-gene interaction between CHAT and APOE was found in GMDR method(testing balanced accuracy = 0.540, p = 0.055). Conclusion：The CHAT A allele was associated with MCI risk in the Korean elderly. Its interaction with the APOE ε4 allele was not significant with regard to the development of MCI.
Abstract
objectives：The potential association between choline acetyltransferase(CHAT) polymorphism and the risk of mild cognitive impairment(MCI) has not been investigated in Korea. We examined the main effect of CHAT polymorphism and its interaction with apolipoprotein E(APOE) polymorphism in the development of MCI in elderly Korean sample. Methods：We analyzed CHAT 2384G > A polymorphism and APOE polymorphism among 149 MCI subjects with MCI and 298 normal controls. We tested the association between MCI and CHAT A allele status using a logistic regression model. In addition, we employed generalized multifactor dimensionality reduction(GMDR) to investigate the interaction between CHAT and APOE with regard to the risk of MCI.Results：The CHAT A allele was associated with AD risk(OR = 1.59, 95% CI = 1.02-2.48, p = 0.042). No sig-nificant gene-gene interaction between CHAT and APOE was found in GMDR method(testing balanced accuracy = 0.540, p = 0.055). Conclusion：The CHAT A allele was associated with MCI risk in the Korean elderly. Its interaction with the APOE ε4 allele was not significant with regard to the development of MCI.
참고문헌 (33)
- Kim KW, "A nationwide survey on the prevalence of dementia and mild cognitive impairment(MCI) in South Korea", J Alzheimers Dis
- Petersen RC, "Mild cognitive impairment: clinical characterization and outcome", Arch Neurol, 56, pp.303~308 (1999)
- Mubumbila V, "Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer’s disease", Neurosci Lett, 333, pp.9~12 (2002)
- Kim KW, "Choline acetyltransferase G +4 A polymorphism confers a risk for Alzheimer’s disease in concert with Apolipoprotein E epsilon4", Neurosci Lett, 366, pp.182~186 (2004)
- Ahn Jo S, "ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms(2384G>A and 1882G>A) with Alzheimer’s disease", Clin Chim Acta, 368, pp.179~182 (2006)
- Davies P, "Selective loss of central cholinergic neurons in Alzheimer’s disease", Lancet, 2, pp.1403~ (1976)
- Perry EK, "Necropsy evidence of central cholinergic deficits in senile dementia", Lancet, 1, pp.189~ (1977)
- Perry EK, "Correlation of cholinergic abnormalities with senile plaques and mental test scores in senile dementia", Br Med J, 2, pp.1457~1459 (1978)
- Davies P, "Neurotransmitter-related enzymes in senile dementia of the Alzheimer type", Brain Res, 171, pp.319~327 (1979)
- Wilcock GK, "Alzheimer’s disease. Correlation of cortical choline acetyltransferase activity with the severity of dementia and histological abnormalities", J Neurol Sci, 57, pp.407~417 (1982)
- Bierer LM, "Neurochemical correlates of dementia severity in Alzheimer’s disease: relative importance of the cholinergic deficits", J Neurochem, 64, pp.749~760 (1995)
- DeKosky ST, "Upregulation of choline acetyltransferase activity in hippocampus and frontal cortex of elderly subjects with mild cognitive impairment", Ann Neurol, 51, pp.145~155 (2002)
- Tang M, "Evaluation of choline acetyltransferase gene polymorphism(2384 G", A) in Alzheimer’s disease and mild cognitive impairment, 2008, pp.26, 9~14
- Park JH, "An overview of the Korean longitudinal study on health and aging", Pschiatry Invest, 4, pp.84~95 (2007)
- Petersen RC, "Mild cognitive impairment as a diagnostic entity", J Intern Med, 256, pp.183~194 (2004)
- Lee JH, "Development of the Korean version of the Consortium to Establish a Registry for Alzheimer’s Disease Assessment Packet(CERAD-K): clinical and neuropsychological assessment batteries", J Gerontol B Psychol Sci Soc Sci, 57, pp.47~53 (2002)
- Sheehan DV, "The Mini-International Neuropsychiatric Interview(M.I.N.I.): the development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10", J Clin Psychiatry, 59, pp.22~33 (1998)
- Yoo SW, "Validity of Korean Version of the Mini-international Neuropsychiatric interview", Anxiety Mood, 2, pp.50~55 (2006)
- Ruff RM, "Benton Controlled Oral Word Association Test: reliability and updated norms", Arch Clin Neuropsychol, 11, pp.329~338 (1996)
- Wechsler D, "Wechsler Adult Intelligence Scale-administration and scoring manual" (1997), The Psychological Corporation
- Kim KW, "Association between apolipoprotein E polymorphism and Alzheimer’s disease in Koreans", Neurosci Lett, 277, pp.145~148 (1999)
- Ritchie MD, "Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer", Am J Hum Genet, 69, pp.138~147 (2001)
- Hahn LW, "Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions", Bioinformatics, 19, pp.376~382 (2003)
- Harold D, "Sequence variation in the CHAT locus shows no association with late-onset Alzheimer’s disease", Hum Genet, 113, pp.258~267 (2003)
- Schwarz S, "Lack of association between a single nucleotide polymorphism within the choline acetyltransferase gene and patients with Alzheimer’s disease", Neurosci Lett, 343, pp.167~170 (2003)
- Cook LJ, "Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer’s disease suggests choline acetyltransferase as a candidate deserving further study", Am J Med Genet B Neuropsychiatr Genet, 132, pp.5~8 (2005)
- Ozturk A, "Genetic variation in the choline acetyltransferase(CHAT) gene may be associated with the risk of Alzheimer’s disease", Neurobiol Aging, 27, pp.1440~1444 (2006)
- Grunblatt E, "Genetic risk factors and markers for Alzheimer’s disease and", or depression in the VITA study, 2009, pp.43, 298~308
- Kozak M, "Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6", EMBO J, 16, pp.2482~2492 (1997)
- Cohen EL, "Brain acetylcholine: increase after systemic choline administration", Life Sci, 16, pp.1095~1102 (1975)
- Haubrich DR, "Regulation of acetylcholine synthesis in nervous tissue", Life Sci, 20, pp.1465~1478 (1977)
- Baskin DS, "Brain choline acetyltransferase and mental function in Alzheimer disease", Arch Neurol, 56, pp.1121~1123 (1999)
- Kim JM, "Apolipoprotein E among Korean Alzheimer’s disease patients in community-dwelling and hospitalized elderly samples", Dement Geriatr Cogn Disord, 13, pp.119~124 (2002)