Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

Lambert, J-C; Grenier‐Boley, Benjamin; Harold, Denise; Zelenika, D; Chouraki, Vincent; Kamatani, Y.; Sleegers, Kristel; Ikram, M. Arfan; Hiltunen, Mikko; Reitz, Christiane; Mateo, Ignacio; Feulner, T; Bullido, María J.; Galimberti, Daniela; Concari, Letizia; Álvarez, Victoria; Sims, Rebecca; Gerrish, Amy; Chapman, Jade; Deniz-Naranjo, C.; Solfrizzi, Vincenzo; Sorbi, Sandro; Arosio, Beatrice; Spalletta, Gianfranco; Siciliano, Gabriele; Epelbaum, Jacques; Hannequin, Didier; Jf, Dartigues; Tzourio, C; Berr, Claudine; Schrijvers, Elisabeth M. C.; Rogers, Robert S.; Tosto, Giuseppe; Pasquier, F; Bettens, Karolien; Cauwenberghe, Caroline Van; Fratiglioni, Laura; Graff, Claus; Délépine, Marc; Ferri, Raffaele; Reynolds, Chandra A.; Lannfelt, Lars; Ingelsson, Martin; Prince, Jarod; Chillotti, Caterina; Seripa, Davide; Boland, Anne; Mancuso, Miriam; Bossù, Paola; Annoni, Giorgio; Nacmias, Benedetta; Bosco, Paolo; Sánchez-García, Florentino; Zompo, Maria Del; Coto, Eliécer; Owen, MJ; O’Donovan, Michael; Valdivieso, Fernando; Caffara, Paolo; Scarpini, Elio; Combarros, Onofre; Buée, Luc; Campion, Dominique; Breteler, Monique M.B.; Riemenschneider, Mona; Broeckhoven, Christine Van; Alpérovitch, A; Lathrop, M; Tregouet, D. A.; Williams, John L.; Amouyel, P.

doi:10.1038/mp.2012.75

Cited by 4 publications

(2 citation statements)

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“…The observation that VDR-binding sites are closely associated with several candidate AD susceptibility genes adds further support to this claim; however, detailed study exploring the role of vitamin D on gene expression and disease susceptibility is needed. The brain function of a selection of the AD susceptibility genes with associated VDR binding sites is outlined in Tables 4 [216][217][218][219][220][221][222][223][224][225].…”

Section: B Neurological Diseasementioning

confidence: 99%

Review: The role of vitamin D in nervous system health and disease

DeLuca

Kimball

Kolasinski

et al. 2013

Neuropathology Appl Neurobio

312

248

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Vitamin D and its metabolites have pleomorphic roles in both nervous system health and disease. Animal models have been paramount in contributing to our knowledge and understanding of the consequences of vitamin D deficiency on brain development and its implications for adult psychiatric and neurological diseases. The conflation of in vitro, ex vivo, and animal model data provide compelling evidence that vitamin D has a crucial role in proliferation, differentiation, neurotrophism, neuroprotection, neurotransmission, and neuroplasticity. Vitamin D exerts its biological function not only by influencing cellular processes directly, but also by influencing gene expression through vitamin D response elements. This review highlights the epidemiological, neuropathological, experimental and molecular genetic evidence implicating vitamin D as a candidate in influencing susceptibility to a number of psychiatric and neurological diseases. The strength of evidence varies for schizophrenia, autism, Parkinson's disease, amyotrophic lateral sclerosis, Alzheimer's disease, and is especially strong for multiple sclerosis.

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Section: B Neurological Diseasementioning

confidence: 99%

Review: The role of vitamin D in nervous system health and disease

DeLuca

Kimball

Kolasinski

et al. 2013

Neuropathology Appl Neurobio

312

248

View full text Add to dashboard Cite

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“…Recent large genome-wide association studies have revealed a number of new genes that affect AD risk [12][13][14]. Also, other studies in different populations have identified AD-associated variations in genes, such as UBQLN1 [15][16][17][18].…”

Section: Ubiquilin-1mentioning

confidence: 99%

Targeting ubiquilin-1 in Alzheimer's disease

Takalo¹,

Haapasalo²,

Natunen³

et al. 2013

Expert Opinion on Therapeutic Targets

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Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

et al. 2013

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Genome-wide association studies (GWAS) have identified a region upstream the BIN1 gene as the most important genetic susceptibility locus in Alzheimer's disease (AD) after APOE. We report that BIN1 transcript levels were increased in AD brains and identified a novel 3 bp insertion allele ∼28 kb upstream of BIN1, which increased (i) transcriptional activity in vitro, (ii) BIN1 expression levels in human brain and (iii) AD risk in three independent case-control cohorts (Meta-analysed Odds ratio of 1.20 (1.14–1.26) (P=3.8 × 10−11)). Interestingly, decreased expression of the Drosophila BIN1 ortholog Amph suppressed Tau-mediated neurotoxicity in three different assays. Accordingly, Tau and BIN1 colocalized and interacted in human neuroblastoma cells and in mouse brain. Finally, the 3 bp insertion was associated with Tau but not Amyloid loads in AD brains. We propose that BIN1 mediates AD risk by modulating Tau pathology.

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Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

Cited by 4 publications

References 0 publications

Review: The role of vitamin D in nervous system health and disease

Review: The role of vitamin D in nervous system health and disease

Targeting ubiquilin-1 in Alzheimer's disease

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

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