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Genetic variation in APOE cluster region and Alzheimer's disease risk

Cervantes, Sebastián, Samaranch, Lluís, Vidal-Taboada, José Manuel, Lamet, Isabel, Bullido, María Jesús, Frank-García, Ana, Coria, Francisco, Lleó, Albert, Clarimón, Jordi, Lorenzo, Elena, Alonso, Elena, Sánchez-Juan, Pascual, Rodríguez-Rodríguez, Eloy, Combarros, Onofre, Rosich, Marcel, Vilella, Elisabet, Pastor, Pau·2011·Neurobiology of Aging
DOI 10.1016/j.neurobiolaging.2011.05.023
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Abstract

We report the fine mapping/sequencing results of promoter and regulatory regions of APOE cluster genes (APOE, APOC1, APOC4, APOC2, and TOMM40) in Alzheimer's disease (AD) risk as well as in the progression from mild cognitive impairment (MCI) to AD. Long-range sequencing in 29 MCI subjects who progressed to dementia revealed 7 novel variants. Two potentially relevant novel variants and 34 single nucleotide polymorphisms (SNPs) were genotyped in a large sample of AD, MCI, and control subjects (n = 1453). Globally, very little association signal was observed in our sample in the absence of APOE ε4. Rs5158 (APOC4 intron 1) and rs10413089 (3' to APOC2) showed a trend toward an increase in AD risk independently from APOE ε4 associated risk though it did not survive multiple test correction (uncorrected p = 0.0099 and 0.01, respectively). Interestingly, rs10413089 showed a similar effect in an independent series. The analysis of the discovery sample showed an association of TOMM40 single nucleotide polymorphisms with progression from MCI stage to AD (rs59007384 and rs11556510), as well as with a shorter time to progression from MCI status to AD (rs10119), though these results could not be replicated in independent series. Further studies are needed to investigate the role of APOE cluster variants in AD risk.

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Metadata

Authors
Cervantes, S., Samaranch, L., Vidal-Taboada, J. M., Lamet, I., Bullido, M. J., Frank-García, A., Coria, F., Lleó, A., Clarimón, J., Lorenzo, E., Alonso, E., Sánchez-Juan, P., Rodríguez-Rodríguez, E., Combarros, O., Rosich, M., Vilella, E., & Pastor, P.
Venue
Neurobiology of Aging
Publisher
Elsevier BV
Published
2011-11
Volume
32
Issue
11
Pages
2107.e7-2107.e17
ISSN
0197-4580
DOI
10.1016/j.neurobiolaging.2011.05.023
Cited by
62
References
11
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Funders
Department of Health of the Government of Navarra

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