Examinando por Autor "Puentes-Rozo, Pedro J."
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Ítem ADGRL3 (LPHN3) variants predict substance use disorder(Nature Research, 2019-01) Arcos-Burgos, Mauricio; Vélez, Jorge I.; Martinez, Ariel F.; Ribasés, Marta; Ramos-Quiroga, Josep A.; Sánchez-Mora, Cristina; Richarte, Vanesa; Roncero, Carlos; Cormand, Bru; Fernández-Castillo, Noelia; Casas, Miguel; Lopera, Francisco; Pineda, David A.; Palacio, Juan D.; Acosta-López, Johan E.; Cervantes-Henriquez, Martha L.; Sánchez-Rojas, Manuel G.; Puentes-Rozo, Pedro J.; Molina, Brooke S. G.; MTA Cooperative Group; Boden, Margaret T.; Wallis, Deeann; Lidbury, Brett; Newman, Saul; Easteal, Simon; Swanson, James; Patel, Hardip; Volkow, Nora; Acosta, Maria T.; Castellanos, Francisco X.; de Leon, Jose; Mastronardi, Claudio A.; Muenke, MaximilianGenetic factors are strongly implicated in the susceptibility to develop externalizing syndromes such as attentiondeficit/ hyperactivity disorder (ADHD), oppositional defiant disorder, conduct disorder, and substance use disorder (SUD). Variants in the ADGRL3 (LPHN3) gene predispose to ADHD and predict ADHD severity, disruptive behaviors comorbidity, long-term outcome, and response to treatment. In this study, we investigated whether variants within ADGRL3 are associated with SUD, a disorder that is frequently co-morbid with ADHD. Using family-based, case-control, and longitudinal samples from disparate regions of the world (n = 2698), recruited either for clinical, genetic epidemiological or pharmacogenomic studies of ADHD, we assembled recursive-partitioning frameworks (classification tree analyses) with clinical, demographic, and ADGRL3 genetic information to predict SUD susceptibility. Our results indicate that SUD can be efficiently and robustly predicted in ADHD participants. The genetic models used remained highly efficient in predicting SUD in a large sample of individuals with severe SUD from a psychiatric institution that were not ascertained on the basis of ADHD diagnosis, thus identifying ADGRL3 as a risk gene for SUD. Recursive-partitioning analyses revealed that rs4860437 was the predominant predictive variant. This new methodological approach offers novel insights into higher order predictive interactions and offers a unique opportunity for translational application in the clinical assessment of patients at high risk for SUD.Ítem Genetic variation underpinning ADHD risk in a caribbean community(Published by MDP, 2019) Puentes-Rozo, Pedro J.; Acosta-López, Johan E.; Cervantes-Henríquez, Martha L.; Martínez-Banfi, Martha L.; Mejia-Segura, Elsy; Sánchez-Rojas, Manuel; Anaya-Romero, Marco E.; Acosta-Hoyos, Antonio; García-Llinás, Guisselle A.; Mastronardi, Claudio A.; Pineda, David A.; Castellanos, F. Xavier; Arcos-Burgos, Mauricio; Vélez, Jorge I.Attention Deficit Hyperactivity Disorder (ADHD) is a highly heritable and prevalent neurodevelopmental disorder that frequently persists into adulthood. Strong evidence from genetic studies indicates that single nucleotide polymorphisms (SNPs) harboured in the ADGRL3 (LPHN3), SNAP25, FGF1, DRD4, and SLC6A2 genes are associated with ADHD. We genotyped 26 SNPs harboured in genes previously reported to be associated with ADHD and evaluated their potential association in 386 individuals belonging to 113 nuclear families from a Caribbean community in Barranquilla, Colombia, using family-based association tests. SNPs rs362990-SNAP25 (T allele; p = 2.46 10x-4), rs2282794-FGF1 (A allele; p = 1.33 10x-2), rs2122642-ADGRL3 (C allele, p = 3.5 10x-2), and ADGRL3 haplotype CCC (markers rs1565902-rs10001410-rs2122642, OR = 1.74, Ppermuted = 0.021) were significantly associated with ADHD. Our results confirm the susceptibility to ADHD conferred by SNAP25, FGF1, and ADGRL3 variants in a community with a significant African American component, and provide evidence supporting the existence of specific patterns of genetic stratification underpinning the susceptibility to ADHD. Knowledge of population genetics is crucial to define risk and predict susceptibility to disease.Ítem Neuropsychological Performance in Patients with Asymptomatic HIV-1 Infection(Taylor & Francis Group, 2018-02-07) Martínez-Banfi, Martha; Vélez, Jorge I.; Perea, M. Victoria; García, Ricardo; Puentes-Rozo, Pedro J.; Mebarak Chams, Moises; Ladera, ValentinaHuman immunodeficiency virus (HIV-1) infection and acquired immunodeficiency syndrome (AIDS) lead to neurocognitive disorders; however, there is still much knowledge to be gained regarding HIV-associated neurocognitive disorders. The purpose of this study was to assess the cognitive performance, instrumental activities of daily living, depression, and anxiety in patients with asymptomatic HIV-1 infections compared with seronegative participants without neurocognitive impairment. We studied a sample consisted of 60 patients with asymptomatic HIV-1 infections and 60 seronegative participants without neurocognitive impairment from the city of Barranquilla, Colombia, with a mean age of 36.07 years. A protocol of neuropsychological and psychopathological tests was applied to the participants. The group of patients with asymptomatic HIV infections significantly underperformed on tasks that assessed global cognitive screening, attention span, learning, phonemic verbal fluency, auditory-verbal comprehension, information processing speed, cognitive flexibility, and motor skills compared to the group of seronegative participants. No significant differences were found in memory, visual confrontation naming, vocabulary, inhibition, and instrumental activities of daily living. Additionally, the patients with asymptomatic HIV-1 infection had a higher anxiety index than the seronegative participants, but no significant difference was found in depression. A correlation was found between depression and anxiety. In conclusion, the patients with asymptomatic HIV-1 infection had lower cognitive performances than the seronegative participants in the cognitive functions mentioned above and more anxiety but still performed the instrumental activities of daily living.Ítem Prepotent response inhibition and reaction times in children with attention deficit/hyperactivity disorder from a Caribbean community(Springer Vienna, 2017-12) Jiménez-Figueroa, Giomar; Ardila-Duarte, Carlos; Pineda, David A.; Acosta-López, Johan E.; Cervantes-Henríquez, Martha L.; Pineda-Alhucema, Wilmar; Cervantes-Gutiérrez, Jeimys; Quintero-Ibarra, Marisol; Sáchez-Rojas, Manuel; Vélez, Jorge I.; Puentes-Rozo, Pedro J.Abstract Impairment in inhibitory control has been postulated as an underlying hallmark of attention deficit/hyperactivity disorder (ADHD), which can be utilized as a quantitative trait for genetic studies. Here, we evaluate whether inhibitory control, measured by simple automatized prepotent response (PR) inhibition variables, is a robust discriminant function for the diagnosis of ADHD in children and can be used as an endophenotype for future genetic studies. One hundred fifty-two school children (30.9% female, 67.8% with ADHD) were recruited. The ADHD checklist was used as the screening tool, whilst the DSM-IV Mini International Neuropsychiatry Interview, neurologic interview and neurologic examination, and the WISC III FSIQ test were administered as the gold standard procedure to assert ADHD diagnosis. A Go/No-Go task using a naturalistic and automatized visual signal was administered. A linear multifactor model (MANOVA) was fitted to compare groups including ADHD status, age, and gender as multiple independent factors. Linear discriminant analysis and the receiver operating characteristic curve were used to assess the predictive performance of PR inhibition variables for ADHD diagnosis. We found that four variables of prepotent response reaction time- and prepotent response inhibition established statistically significant differences between children with and without ADHD. Furthermore, these variables generated a strong discriminant function with a total classification capability of 73, 84% specificity, 68% sensitivity, and 90% positive predictive value for ADHD diagnosis, which support reaction times as a candidate endophenotype that could potentially be used in future ADHD genetic research.