Last update 01 Nov 2024

Centre For Biomedical Network Research On Rare Diseases

Last update 01 Nov 2024

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Translational Medicine

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100 Clinical Results associated with Centre For Biomedical Network Research On Rare Diseases

0 Patents (Medical) associated with Centre For Biomedical Network Research On Rare Diseases

497

Literatures (Medical) associated with Centre For Biomedical Network Research On Rare Diseases

31 Dec 2024·Annals of Human Biology

Worldwide distribution of genetic factors related to severity of COVID-19 infection

Article

Author: Esteban, María Esther ; Fernández-Santander, Ana ; Gaibar, María ; Lapunzina, Pablo ; Flores, Carlos ; Novillo, Apolonia ; Romero-Lorca, Alicia ; Pino, Débora ; Athanasiadis, Georgios ; Riancho, José A ; Carracedo, Ángel ; Rojas-Martínez, Augusto

BACKGROUNDGenome-wide association studies of COVID-19 severity have been carried out mostly on European or East Asian populations with small representation of other world regions. Here we explore the worldwide distribution and linkage disequilibrium (LD) patterns of genetic variants previously associated with COVID-19 severity.METHODSWe followed up the results of a large Spanish genome-wide meta-analysis on 26 populations from the 1000 Genomes Project by calculating allele frequencies and LD scores of the nine most significant SNPs. We also used the entire set of summary statistics to compute polygenic risk scores (PRSs) and carried out comparisons at the population and continental level.RESULTSWe observed the strongest differences among continental regions for the five top SNPs in chromosome 3. European, American, and South Asian populations showed similar LD patterns. Average PRSs in South Asian and American populations were consistently higher than those observed in Europeans. While PRS distributions were similar among South Asians, the American populations showed striking differences among them.CONCLUSIONSConsidering the caveats of PRS transferability across ethnicities, our analysis showed that American populations present the highest genetic risk score, hence potentially higher propensity, for COVID-19 severity. Independent validation is warranted with additional summary statistics and phenotype data.

01 Dec 2024·Progress in Neuro-Psychopharmacology and Biological Psychiatry

Role of CYP2D6 and CYP3A4 polymorphisms on aripiprazole and dehydroaripiprazole concentrations in patients undergoing long-acting treatment

Article

Author: Carracedo, Angel ; Cajade-Pascual, Francisco ; Fernández-Ferreiro, Anxo ; Mondelo-García, Cristina ; Zarra-Ferro, Irene ; Vidal, Gonzalo Hermelo ; Durán-Maseda, María José ; Gestal, Ana Estany ; Maroñas, Olalla ; Rial-Pérez, Alicia ; Vidal-Millares, María ; Vidal-Villares, María ; Toja-Camba, Francisco José

Aripiprazole once-monthly (AOM) exhibits an important interindividual pharmacokinetic variability with significant implications for its clinical use. CYP2D6 and CYP3A4 highly contributes to this variability, as they metabolize aripiprazole (ARI) into its active metabolite, dehydroaripiprazole (DHA) and the latter into inactive metabolites. This study aims to evaluate the effect of CYP2D6 and CYP3A4 polymorphisms in combination and the presence of concomitant inducers and inhibitors of this cytochromes on ARI and DHA plasma concentrations in a real clinical setting. An observational study of a cohort of 74 Caucasian patients under AOM treatment was conducted. Regarding CYP2D6, higher concentrations were found for active moiety (ARI plus DHA) (AM) (67 %), ARI (67 %) and ARI/DHA ratio (77 %) for poor metabolizers (PMs) compared to normal metabolizers (NMs). No differences were found for DHA. PMs for both CYP2D6 and CYP3A4 showed a 58 % higher AM and 66 % higher plasma concentration for ARI compared with PMs for CYP2D6 and NMs for CYP3A4. In addition, PMs for both CYP2D6 and CYP3A4 have 45 % higher DHA concentrations than NMs for both cytochromes and 41 % more DHA than PMs for CYP2D6 and NMs for CYP3A4, suggesting a significant role of CYP3A4 in the elimination of DHA. Evaluating the effect of CYPD26 and CYP3A4 metabolizing state in combination on plasma concentrations of ARI, DHA and parent-to-metabolite ratio, considering concomitant treatments with inducers and inhibitor, could optimize therapy for patients under AOM treatment.

01 Nov 2024·Journal of Psychosomatic Research

The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders

Article

Author: Ansede-Bermejo, Juan ; Weber, Samantha ; Del Real, Álvaro ; Carracedo, Ángel ; Rey Álvarez, Lucía Trinidad ; Álvarez, Lucía Trinidad Rey ; Bühler, Janine ; Aybek, Selma ; Cruz, Raquel ; del Real, Álvaro

OBJECTIVEWe studied gene-environment, as well as gene-gene interaction to elucidate their effects on symptom severity and predict clinical outcomes in functional neurological disorders (FND).METHODSEighty-five patients with mixed FND were genotyped for ten single-nucleotide polymorphisms (SNP) from seven different stress-related genes. We tested cross-sectionally the association between genotype and the symptomatology of FND (symptom severity assessed with the examiner-based clinical global impression score [CGI] and age of onset). Clinical outcome was assessed in 52 patients who participated in a follow-up clinical visit after eight months (following their individual therapies as usual). We tested longitudinally the association between genotype and clinical outcome in FND. We examined the contribution of each SNP and their interaction between them to FND symptomatology and outcome.RESULTSWe identified a nominal association between tryptophan hydroxylase 1 (TPH1) rs1800532 and symptom severity (CGI₁) in FND under a codominant model (T/T: ß_T/T = 2.31, se_T/T = 0.57; G/T: ß_G/T = -0.18, se_G/T = 0.29, P = 0.035), with minor allele (T) carriers presenting more severe symptoms. An association was identified between TPH1 and clinical outcome, suggesting that major allele (G) carriers were more likely to have an improved outcome under a codominant model (G/T: OR_G/T = 0.18, CI_G/T = [0.02-1.34]; T/T: OR_T/T = 2.08, CI_T/T = [0.30-14.53], P = 0.041). Our analyses suggested a significant gene-gene interaction for TPH2 (rs4570625) and OXTR (rs2254298) on symptom severity, and a significant gene-gene interaction for TPH1, TPH2 and BDNF (rs1491850) on clinical outcome.CONCLUSIONFND might arise from a complex interplay between individual predisposing risk genes involved in the serotonergic pathway and their gene-gene interactions.

100 Deals associated with Centre For Biomedical Network Research On Rare Diseases

100 Translational Medicine associated with Centre For Biomedical Network Research On Rare Diseases

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