Publicaciones

ADGC, Bonn, CHARGE, EADB, EADI, FinnGen, GERAD, GR@ACE/DEGESCO, PGC-ALZ. Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia. medRxiv : the preprint server for health sciences, 2025
García-González, P.;Rodrigo Lara, H.;Compta, Y.;Fernandez, M.;van der Lee, SJ.;de Rojas, I.;Saiz, L. et al. A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC. European journal of human genetics : EJHG, 33(7):960-5, 2025. (F.I.).
Lorenzini, L.;Tranfa, M.;Pieperhoff, L.;Masserini, F.;Ten Kate, M.;Collij, LE. Et al. Cortical thickness subtypes in cognitively unimpaired individuals: Differential network and transcriptomic vulnerability to cortical thinning. Alzheimer's & dementia : the journal of the Alzheimer's Association, 21(10):e70762, 2025.
Puerta, R.;de Rojas, I.;García-González, P.;Olivé, C.;Sotolongo-Grau, O.;García-Sánchez, A. et al. Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO. Functional & integrative genomics, 25(1):73, 2025.
García-Alberca JM, de Rojas I, Sanchez-Mejias E, Garrido-Martín D, Gonzalez-Palma L, Jimenez S, et al. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response. J Alzheimers Dis. 2024;98(2):601-18. 38427484. 10.3233/jad-231150

Le Borgne J, Amouyel P, Andreassen O, Frikke-Schmidt R, Hiltunen M, Ingelsson M, Ramirez A, Rossi G, Ruiz A, Sanchez-Juan P, Sims R, Sleegers K, Tsolaki M, van der Lee SJ, Williams J, Lambert JC, Bellenguez C. Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status. Alzheimers Dement. 2024;20(3):2282-4. 38041824. 10.1002/alz.13550

Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, et al . X-chromosome-wide association study for Alzheimer's disease. Mol Psychiatry. 2024. 39633006. 10.1038/s41380-024-02838-5

Le Guen Y, Luo G, Ambati A, et al. Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proc Natl Acad Sci U S A. 2023;120(36):e2302720120. doi:10.1073/pnas.2302720120

García-González P, de Rojas I, Moreno-Grau S, et al. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men. Int J Mol Sci. 2023;24(2):898. Published 2023 Jan 4. doi:10.3390/ijms24020898

Le Guen Y, Belloy ME, Grenier-Boley B, et al. Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease. JAMA Neurol. 2022;79(7):652-663. doi:10.1001/jamaneurol.2022.1166
Bellenguez C, Küçükali F, Jansen IE, et al. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet. 2022;54(4):412-436. doi:10.1038/s41588-022-01024-z
de Rojas I, Hernández I, Montrreal L, Quintela I, Calero M, Royo JL, et al. Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study. Journal of Personalized Medicine. 2021;11(12):1318.
Moreno-Grau, S., Fernández, M.V., de Rojas, I. et al. Long runs of homozygosity are associated with Alzheimer’s disease. Transl Psychiatry 11, 142 (2021). https://doi.org/10.1038/s41398-020-01145-1
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B. Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores. medRxiv. 2019 Nov 15(19012021).
Sánchez-Juan P, Moreno S, de Rojas I, Hernández I, Valero S, Alegret M, Montrreal L, González PG, Lage C, López-García S, Rodrííguez-Rodríguez E. The MAPT H1 Haplotype Is a Risk Factor for Alzheimer’s Disease in APOE ε4 Non-carriers. Frontiers in Aging Neuroscience. 2019;11.
Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, et al. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. Alzheimers and Dementia. 2019 Aug 13. pii: S1552-5260(19)35117-9. doi: 10.1016/j.jalz.2019.06.4950. PMID: 31473137.
Van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, et al. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathologica. 2019.
Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, de Munain AL, et al. Assessing the role of TUBA4A gene in frontotemporal degeneration. Neurobiology of aging. 2016 Feb;38:215 e13-4. PubMed PMID: 26675813. Epub 2015/12/18.
Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernandez I, Rojas-Garcia R, et al. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain. Brain : a journal of neurology. 2015 Dec;138(Pt 12):e400. PubMed PMID: 26152333. Epub 2015/07/15.
Pastor P, Moreno F, Clarimon J, Ruiz A, Combarros O, Calero M, et al. MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEvarepsilon4 Noncarriers: Results from the Dementia Genetics Spanish Consortium. Journal of Alzheimer's disease : JAD. 2015;49(2):343-52. PubMed PMID: 26444794. Epub 2015/10/08.
Ruiz A, Dols-Icardo O, Bullido MJ, Pastor P, Rodriguez-Rodriguez E, Lopez de Munain A, et al. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiology of aging. 2014 Feb;35(2):444 e1-4. PubMed PMID: 24041969. Epub 2013/09/18.
Thelen M, Razquin C, Hernandez I, Gorostidi A, Sanchez-Valle R, Ortega-Cubero S, et al. Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes. Neurobiology of aging. 2014 Nov;35(11):2657 e13-9. PubMed PMID: 25042114. Epub 2014/07/22.
Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, et al. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. Alzheimers and Dementia. 2019 Aug 13. pii: S1552-5260(19)35117-9. doi: 10.1016/j.jalz.2019.06.4950. PMID: 31473137.