Your search for: 'author:("Ramirez-Lorca, Reposo")' has returned 3 results. (0.009s) Save search

Authors: Antúnez, Carmen | Boada, Mercé | López-Arrieta, Jesús | Ramirez-Lorca, Reposo | Hernández, Isabel | Marín, Juan | Martínez-Lage, Pablo | González-Pérez, Antonio | Jorge Galan, José | Gayán, Javier | Real, Luis M. | Ruiz, Agustín

Article Type: Short Communication

Abstract: GOLPH2 gene SNP variants Rs10868366 and Rs7019241 were reported to decrease the risk of Alzheimer's disease in a recent Whole Genome Association Study. We have investigated these genetic variants in 2470 individuals from Spain to conduct an independent replication study of the proposed SNP markers. We found no evidence of association between GOLPH2 markers and susceptibility to Alzheimer's disease in our series. We concluded that GOLPH2 gene does not contribute to risk of disease in this study sample.

Keywords: Alzheimer's disease, complex diseases, genetic susceptibility, Genome Wide Association Studies (GWAS), GOLPH2, human molecular genetics, neurodegeneration

DOI: 10.3233/JAD-2009-1200

Citation: Journal of Alzheimer's Disease, vol. 18, no. 4, pp. 751-754, 2009

Authors: Ramírez-Lorca, Reposo | Boada, Mercé | Antúnez, Carmen | López-Arrieta, Jesús | Moreno-Rey, Concha | Hernández, Isabel | Marín, Juan | Gayán, Javier | González-Pérez, Antonio | Alegret, Montserrat | Tárraga, Lluis | Real, Luis M. | Ruiz, Agustín

Article Type: Short Communication

Abstract: 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.

Keywords: Folate, GWAS, homocysteine, MTHFD1L, population genetics, susceptibility, SNP

DOI: 10.3233/JAD-2011-101983

Citation: Journal of Alzheimer's Disease, vol. 25, no. 1, pp. 47-50, 2011

Authors: Martinez-Mir, Amalia | González-Pérez, Antonio | Gayán, Javier | Antúnez, Carmen | Marín, Juan | Boada, Mercé | Lopez-Arrieta, Jesús María | Alzheimer's Disease Neuroimaging Initiative | Fernández, Evaristo | Ramírez-Lorca, Reposo | Sáez, María Eugenia | Ruiz, Agustín | Scholl, Francisco G. | Real, Luis Miguel

Article Type: Research Article

Abstract: The interaction between neurexins and neuroligins promotes the formation of functional synaptic structures. Recently, it has been reported that neurexins and neuroligins are proteolytically processed by presenilins at synapses. Based on this interaction and the role of presenilins in familial Alzheimer's disease (AD), we hypothesized that dysfunction of the neuroligin-neurexin pathway might be associated with AD. To explore this hypothesis, we carried out a meta-analysis of five genome-wide association studies (GWAS) comprising 1, 256 SNPs in the NRXN1, NRXN2, NRXN3, and NLGN1 genes (3,009 cases and 3,006 control individuals). We identified a marker in the NRXN3 gene (rs17757879) that showed …a consistent protective effect in all GWAS, however, the statistical significance obtained did not resist multiple testing corrections (OR = 0.851, p = 0.002). Nonetheless, gender analysis revealed that this effect was restricted to males. A combined meta-analysis of the former five GWAS together with a replication Spanish sample consisting of 1,785 cases and 1,634 controls confirmed this observation (rs17757879, OR = 0.742, 95% CI = 0.632–0.872, p = 0.00028, final meta-analysis). We conclude that NRXN3 might have a role in susceptibility to AD in males. Show more

Keywords: Alzheimer's disease, genetics, genome-wide association study, meta-analysis, neurexins, neuroligins, NRXN3

DOI: 10.3233/JAD-122257

Citation: Journal of Alzheimer's Disease, vol. 35, no. 2, pp. 403-412, 2013