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Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes

Bray, Nicholas John, Jehu, Luke, Moskvina, Vanentina, Buxbaum, Joseph D., Dracheva, Stella, Haroutunian, Vahram, Williams, Julie, Buckland, Paul Robert, Owen, Michael John and O'Donovan, Michael Conlon 2004. Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Human Molecular Genetics 13 (22) , pp. 2885-2892. 10.1093/hmg/ddh299

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The ε4 haplotype of APOE is the only undisputed genetic risk factor for late-onset Alzheimer's disease (LOAD). It has been proposed that at least two other polymorphisms in the promoter of the APOE gene (−219G>T and −491A>T) might also contribute to disease susceptibility, and modulate the impact of structural changes in the ApoE protein, by altering its expression. In order to assess the extent of cis-acting influences on APOE expression in human brain, highly quantitative measures of allele discrimination were applied to cortical RNA from individuals heterozygous for the epsilon alleles. A small, but significant, increase in the expression of ε4 allele was observed relative to that of the ε3 and ε2 alleles (P<0.0001). Similar differences were observed in brain tissue from confirmed LOAD subjects, and between cortical regions BA10 (frontopolar) and BA20 (inferior temporal). Stratification of ε4/ε3 allelic expression ratios according to heterozygosity for the −219G>T promoter polymorphism revealed significantly lower relative expression of haplotypes containing the −219T allele (P=0.02). Our data indicate that, in human brain, most of the cis-acting variance in APOE expression is accounted for by the ε4 haplotype, but there are additional, small, cis-acting influences associated with promoter genotype.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Systems Immunity Research Institute (SIURI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Oxford University Press
ISSN: 1460-2083
Last Modified: 14 Feb 2020 13:05

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