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