Apolipoprotein e promoter polymorphisms (-491A/T and -427T/C) and Alzheimer's disease: No evidence of association in the Irish population

Cecelia A Lynch, John K Brazil, Breda Cullen, Davis P Coakley, Michael Gill, Brian A Lawlor, Ziarih Hawi

Research output: Contribution to journalArticleResearchpeer-review

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Abstract

Background Alzheimer s Disease (AD) is a progressive neurodegenerative disorder with as yet poorly understood aetiology. Both environmental and genetic factors have been implicated as predisposing factors. The APOE e4 allele is an established genetic susceptibility factor for AD for several populations including the Irish. Polymorphisms (-491A/T and -427T/C) at the promoter region of the APOE gene are postulated to affect the expression of the gene through differential binding of transcription factors. Aims Two APOE promoter polymorphisms (-491A/T and -427T/C) are examined for possible association with AD. Methods Using a case-control study design, a sample of 112 Irish late onset Alzheimer s (LOAD) patients and 107 ethnically matched controls were investigated for association with the above polymorphisms. Conclusions No evidence of association between any of the examined markers and AD was observed. Haplotype analysis using markers -491A/T and -427T/C in conjunction with the APOE (Hha I) polymorphism revealed significant associations of three haplotypes with AD. However, this association was mainly due to the highly significant association of the APOE e4 allele with AD and not of the promoter variants
Original languageEnglish
Pages (from-to)29 - 33
Number of pages5
JournalIrish Journal of Medical Science
Volume177
Issue number1
DOIs
Publication statusPublished - 2008
Externally publishedYes

Cite this

Lynch, Cecelia A ; Brazil, John K ; Cullen, Breda ; Coakley, Davis P ; Gill, Michael ; Lawlor, Brian A ; Hawi, Ziarih. / Apolipoprotein e promoter polymorphisms (-491A/T and -427T/C) and Alzheimer's disease: No evidence of association in the Irish population. In: Irish Journal of Medical Science. 2008 ; Vol. 177, No. 1. pp. 29 - 33.
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title = "Apolipoprotein e promoter polymorphisms (-491A/T and -427T/C) and Alzheimer's disease: No evidence of association in the Irish population",
abstract = "Background Alzheimer s Disease (AD) is a progressive neurodegenerative disorder with as yet poorly understood aetiology. Both environmental and genetic factors have been implicated as predisposing factors. The APOE e4 allele is an established genetic susceptibility factor for AD for several populations including the Irish. Polymorphisms (-491A/T and -427T/C) at the promoter region of the APOE gene are postulated to affect the expression of the gene through differential binding of transcription factors. Aims Two APOE promoter polymorphisms (-491A/T and -427T/C) are examined for possible association with AD. Methods Using a case-control study design, a sample of 112 Irish late onset Alzheimer s (LOAD) patients and 107 ethnically matched controls were investigated for association with the above polymorphisms. Conclusions No evidence of association between any of the examined markers and AD was observed. Haplotype analysis using markers -491A/T and -427T/C in conjunction with the APOE (Hha I) polymorphism revealed significant associations of three haplotypes with AD. However, this association was mainly due to the highly significant association of the APOE e4 allele with AD and not of the promoter variants",
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Apolipoprotein e promoter polymorphisms (-491A/T and -427T/C) and Alzheimer's disease: No evidence of association in the Irish population. / Lynch, Cecelia A; Brazil, John K; Cullen, Breda; Coakley, Davis P; Gill, Michael; Lawlor, Brian A; Hawi, Ziarih.

In: Irish Journal of Medical Science, Vol. 177, No. 1, 2008, p. 29 - 33.

Research output: Contribution to journalArticleResearchpeer-review

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T1 - Apolipoprotein e promoter polymorphisms (-491A/T and -427T/C) and Alzheimer's disease: No evidence of association in the Irish population

AU - Lynch, Cecelia A

AU - Brazil, John K

AU - Cullen, Breda

AU - Coakley, Davis P

AU - Gill, Michael

AU - Lawlor, Brian A

AU - Hawi, Ziarih

PY - 2008

Y1 - 2008

N2 - Background Alzheimer s Disease (AD) is a progressive neurodegenerative disorder with as yet poorly understood aetiology. Both environmental and genetic factors have been implicated as predisposing factors. The APOE e4 allele is an established genetic susceptibility factor for AD for several populations including the Irish. Polymorphisms (-491A/T and -427T/C) at the promoter region of the APOE gene are postulated to affect the expression of the gene through differential binding of transcription factors. Aims Two APOE promoter polymorphisms (-491A/T and -427T/C) are examined for possible association with AD. Methods Using a case-control study design, a sample of 112 Irish late onset Alzheimer s (LOAD) patients and 107 ethnically matched controls were investigated for association with the above polymorphisms. Conclusions No evidence of association between any of the examined markers and AD was observed. Haplotype analysis using markers -491A/T and -427T/C in conjunction with the APOE (Hha I) polymorphism revealed significant associations of three haplotypes with AD. However, this association was mainly due to the highly significant association of the APOE e4 allele with AD and not of the promoter variants

AB - Background Alzheimer s Disease (AD) is a progressive neurodegenerative disorder with as yet poorly understood aetiology. Both environmental and genetic factors have been implicated as predisposing factors. The APOE e4 allele is an established genetic susceptibility factor for AD for several populations including the Irish. Polymorphisms (-491A/T and -427T/C) at the promoter region of the APOE gene are postulated to affect the expression of the gene through differential binding of transcription factors. Aims Two APOE promoter polymorphisms (-491A/T and -427T/C) are examined for possible association with AD. Methods Using a case-control study design, a sample of 112 Irish late onset Alzheimer s (LOAD) patients and 107 ethnically matched controls were investigated for association with the above polymorphisms. Conclusions No evidence of association between any of the examined markers and AD was observed. Haplotype analysis using markers -491A/T and -427T/C in conjunction with the APOE (Hha I) polymorphism revealed significant associations of three haplotypes with AD. However, this association was mainly due to the highly significant association of the APOE e4 allele with AD and not of the promoter variants

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