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Ramirez-Lorca R.,NeoCodex | Boada M.,Institute Catala Of Neurciencies Aplicades | Boada M.,Autonomous University of Barcelona | Antunez C.,University of Murcia | And 10 more authors.
Journal of Alzheimer's Disease | Year: 2011

The MTHFD1L gene SNP variant rs11754661 was found to increase the risk of Alzheimer's disease in a recent Whole Genome Association Study [1]. We have carried out an independent study of this genetic variant in 2467 individuals from Spain. We found no evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease in our sample. © 2011 - IOS Press and the authors. All rights reserved.

Antunez C.,University of Murcia | Boada M.,Institute Catal Of Neurcincies Aplicades | Boada M.,Autonomous University of Barcelona | Lopez-Arrieta J.,University Hospital la Paz Cantoblanco | And 10 more authors.
Alzheimer's and Dementia | Year: 2011

Complement receptor 1 gene polymorphism rs3818361 was recently shown to increase the risk of Alzheimer's disease (AD). We performed an independent replication study of this genetic variant in 2470 individuals from Spain. By applying an allelic model, we observed a trend toward an association between this marker and late-onset AD susceptibility in our case-control study (odds ratio = 1.114, 95% confidence interval: 0.958-1.296, P =.16). Meta-analysis of available studies (n = 31,771 individuals), including previous studies and public genome-wide association study resources (Alzheimer's Disease Neuroimaging Initiative, Translational Genomics Research Institute, and Multi-site Collaborative Study for Genotype-Phenotype Associations in Alzheimer's Disease), strongly supports the effect of rs3818361 (odds ratio = 1.180, 95% confidence interval: 1.113-1.252, P < 2.99E-8) and suggests the existence of between-study heterogeneity (P <.05). We concluded that the complement receptor 1 gene may contribute to AD risk, although its effect size could be smaller than previously estimated. © 2011 The Alzheimer's Association. All rights reserved.

Ruiz A.,Institute Catala Of Neurociencies Aplicades | Ruiz A.,University of Bonn | Heilmann S.,University of Bonn | Becker T.,German Center for Neurodegenerative Diseases | And 48 more authors.
Translational Psychiatry | Year: 2014

To follow-up loci discovered by the International Genomics of Alzheimer's Disease Project, we attempted independent replication of 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundació ACE data set; 1808 patients and 2564 controls). Our results corroborate association with four SNPs located in the genes INPP5D, MEF2C, ZCWPW1 and FERMT2, respectively. Of these, ZCWPW1 was the only SNP to withstand correction for multiple testing (P=0.000655). Furthermore, we identify TRIP4 (rs74615166) as a novel genome-wide significant locus for Alzheimer's disease risk (odds ratio=1.31; confidence interval 95% (1.19-1.44); P=9.74 × 10 - 9). © 2014 Macmillan Publishers Limited All rights reserved.

Moreno-Grau S.,Institute Catala Of Neurociencies Aplicades | Moreno-Grau S.,Institute Of Recerca Of Lhospital Universitari Of La Vall Dhebron Vhir | Barneda B.,Institute Of Recerca Of Lhospital Universitari Of La Vall Dhebron Vhir | Barneda B.,Autonomous University of Barcelona | And 26 more authors.
Journal of Alzheimer's Disease | Year: 2015

The objective of this study was to identify genetic variation in genes encoding death receptors and signals that modulate their activity. After conducting a meta-analysis with five previous genome-wide association studies and aggregated data, the most significant signals, (TNF locus: rs2395488, rs2534672, and rs9267445; and FASLG locus: rs730278), were replicated in 1,046 cases and 372 controls. The rs2395488 and rs2534672 markers showed a modest protective effect (OR = 0.849, p = 0.49780; OR = 0.687, p = 0.11335), in contrast to rs730278 marker (OR = 1.146, p = 0.17212), which did not follow the previous effect direction; in any case it reached the significance level. Final meta-analysis, adding the replication sample, confirmed these observations. We concluded that FASLG marker is not etiologically linked to Alzheimer's disease. However, single nucleotide polymorphisms around TNF locus require further analyses in order to explain the association between Alzheimer's disease and human leukocyte antigen. © 2015 - IOS Press and the authors. All rights reserved.

Ruiz A.,Institute Catala Of Neurociencies Aplicades | Dols-Icardo O.,Autonomous University of Barcelona | Dols-Icardo O.,CIBER ISCIII | Bullido M.J.,CIBER ISCIII | And 47 more authors.
Neurobiology of Aging | Year: 2014

A non-synonymous genetic rare variant, rs75932628-T (p.R47H), in the TREM2 gene has recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3172 AD and 682 FTD patients and 2169 healthy controls from Spain. We found that 0.6% of AD patients carried this variant compared to 0.1% of controls (odds ratio [OR]= 4.12, 95% confidence interval [CI]= 1.21-14.00, p= 0.014). A meta-analysis comprising 32,598 subjects from 4 previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR= 4.11, 95% CI= 2.99-5.68, p= 5.27×10-18). We did not find an association between p.R47H and age of onset of AD or family history of dementia. Finally, none of the FTD patients harbored this genetic variant. These data strongly support the important role of p.R47H in AD risk, and suggest that this rare genetic variant is not related to FTD. © 2014 Elsevier Inc.

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