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Int J Mol Epidemiol Genet 2010;1(2):104-113.

Original Article
LRP-1 variation is not associated with risk of Alzheimer’s disease

Katy A Chalmers, Rachel Barker, Peter A Passmore, Francesco Panza, Davide Seripa, Vincenzo Solfrizzi, Seth Love, Jonathan A
Prince, Patrick G Kehoe

Dementia Research Group, University of Bristol, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol, UK;
Department of Geriatric Medicine, The Queen’s University of Belfast, Belfast, UK; Department of Geriatrics, Center
for Aging Brain, Memory Unit, University of Bari, Bari, Italy; Geriatric Unit and Gerontology-Geriatrics Research Laboratory,
Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden.

Received February 8, 2010, accepted February 15, 2010, available online: February 20, 2010

Abstract: Alzheimer’s disease (AD) is characterised by the extensive deposition of amyloid beta (Aβ) within the parenchyma
and vasculature of the brain. It is hypothesised that a dysfunction in Aβ degradation and/or its removal from the brain may result
in accumulation as plaques. Low density lipoprotein receptor-related protein-1 (LRP-1) is a multifunctional receptor shown to
be involved in cholesterol metabolism but also the removal of Aβ from the brain. Its ability to transport Aβ from the brain to the
periphery has made it an attractive candidate for involvement in Alzheimer’s disease (AD). We have assessed the frequencies
of 9 tag- SNPs and the commonly studied synonymous SNP within exon 3 (rs1799986) in a multi-centre AD/control cohort and
performed haplotype analysis. We found no evidence from a combined total of 412 controls and 1057 AD patients to support
the involvement of LRP-1 variation, including the most commonly studied variant in rs1799986 in conferring genetic
susceptibility to increased risk of AD. (IJMEG1002002).

Key words: LRP-1, Alzheimer’s disease, association analysis

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Address all correspondence to:
Katy A Chalmers, PhD
Research Group, University of Bristol
Institute of Clinical Neurosciences
Frenchay Hospital, Bristol, UK.