Irish Journal of Medical Science

, Volume 177, Issue 1, pp 29–33 | Cite as

Apolipoprotein E promoter polymorphisms (−491A/T and −427T/C) and Alzheimer’s disease: no evidence of association in the Irish population

  • C. A. Lynch
  • J. Brazil
  • B. Cullen
  • D. Coakley
  • M. Gill
  • B. A. Lawlor
  • Z. Hawi
Original Article



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.


Two APOE promoter polymorphisms (−491A/T and −427T/C) are examined for possible association with AD.


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.


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.


Alzheimer’s disease Apolipoprotein E Promoter polymorphisms 



We would like to acknowledge the Mercer Foundation, the Medical Research Council (UK), the Health Research Board and the Higher Education Authority for financial support.


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Copyright information

© Royal Academy of Medicine in Ireland 2007

Authors and Affiliations

  • C. A. Lynch
    • 1
  • J. Brazil
    • 2
  • B. Cullen
    • 1
  • D. Coakley
    • 1
  • M. Gill
    • 2
  • B. A. Lawlor
    • 1
  • Z. Hawi
    • 2
  1. 1.Mercer’s Institute for Research on Ageing, Hospital 4St James’s HospitalDublin 8Ireland
  2. 2.Department of Genetics and PsychiatryTrinity CollegeDublin 2Ireland

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