126 research outputs found

    La enseñanza-aprendizaje del inglés en un aula inclusiva de la Institución Educativa Distrital Alemania Solidaria

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    La importancia que ha adquirido el tema de la inclusión en el mundo de la educación ha superado fronteras y barreras culturales, sociales, idiomáticas, económicas, entre otras, a lo largo y ancho del mundo entero; pero a pesar de los avances logrados en las últimas décadas es menester saber que aún hay mucho trabajo por realizar y más obstáculos por superar. Este trabajo intenta dar a conocer con más profundidad cómo se desarrollan procesos de inclusión educativa en el contexto específico de una clase de inglés, que debe llevarse a cabo de una manera diferente y utilizando todo tipo de actividades para poder llegar a toda la población presente en el aula, tanto a los niños con necesidades educativas especiales como a quienes no las poseen. Luego de una contextualización del lugar en donde se llevó a cabo la investigación, se hace una aproximación tanto a nivel teórico, como desde el punto de vista normativo y legal, sobre el amplio tema de la enseñanza y aprendizaje del inglés, pero en particular de las NEE1 y la inclusión educativa. A continuación se hace una descripción del tipo de investigación a usar y las características especiales que debe poseer. Por último, se analizan datos recolectados que ponen en evidencia los resultados logrados en cuanto a sus objetivos generales y específicos. Finaliza con las conclusiones y recomendaciones para otros trabajos de este tipo y con la propuesta para llevar a cabo de una manera más optima la inclusión educativa dentro de una clase de inglés.The importance attached to the issue of inclusion in the world of education has overcome borders and cultural, social, linguistic, economic barriers, among others, throughout the world; but despite the progress made in recent decades it is necessary to know that there is still much work to be done and more obstacles to overcome. This paper tries to explain in more depth how processes of educational inclusion are developed in the specific context of a class of English, which must be done in a different way and using all kinds of activities in order to reach the entire present population the classroom, both children with special educational needs and those who do not possess them. After a contextualization of the place where they carried out the research, an approach both theoretical as well as from the normative and legally, on the broad topic of teaching and learning English, but in particular is the NEE1 and educational inclusion. A description of the type of research to use and special features that should have done. Finally, they collected data which demonstrate the results achieved in their general and specific objectives are analyzed. It ends with conclusions and recommendations for other work of this kind and with the proposal to carry out a more optimal educational inclusion in an English class manner

    Inclusiva. Modelo de evaluación: enfoque y componentes

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    25 p.El modelo de evaluación INCLUSIVA que se describe a continuación, tiene por finalidad aportar información que oriente a las escuelas sobre qué acciones debieran adoptar para ser más inclusivas y conseguir que todos los estudiantes participen y aprendan independientemente de sus diferencias. El modelo tiene como fundamento que todas las personas tienen derecho a acceder a una educación de calidad que les permita su plena participación en todas las áreas de la vida social y el desarrollo de su proyecto de vida. Hacer efectivo este derecho implica que ha de ser garantizado a todos los seres humanos sin ningún tipo de discriminación. Garantizar la no discriminación y la plena participación en educación pasa necesariamente por el desarrollo de escuelas inclusivas que acojan a todos los niños y jóvenes de su comunidad y den respuesta a sus necesidades de aprendizaje. La inclusión está relacionada con el acceso, la participación y logros de todos los estudiantes, con especial énfasis en aquellos que, por diferentes razones, están excluidos o en riesgo de ser marginados constituyendo un impulso fundamental para avanzar en la agenda de educación para todos (UNESCO 2005). Alcanzar el objetivo de una educación de calidad para todos sin exclusiones exige ofrecer igualdad de oportunidades para que todos y cada uno de los estudiantes alcancen el máximo desarrollo de su potencial y se sientan integrados y valorados en su comunidad escolar. Las escuelas inclusivas tienen el desafío de proporcionar a cada persona los recursos y apoyos que necesita para que esté en igualdad de condiciones de aprovechar las oportunidades educativas. Numerosos estudios demuestran que las escuelas inclusivas aseguran la igualdad de oportunidades, logran mejores aprendizajes, son más innovadoras, muestran un mayor desarrollo profesional y enriquecen a la comunidad escolar.Material elaborado por la FUNDACIÓN HINENI en el marco del Proyecto FONDEF/Conicyt D041131

    Obesity status and obesity-associated gut dysbiosis effects on hypothalamic structural covariance

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    Background: Functional connectivity alterations in the lateral and medial hypothalamic networks have been associated with the development and maintenance of obesity, but the possible impact on the structural properties of these networks remains largely unexplored. Also, obesity-related gut dysbiosis may delineate specific hypothalamic alterations within obese conditions. We aim to assess the effects of obesity, and obesity and gut-dysbiosis on the structural covariance differences in hypothalamic networks, executive functioning, and depressive symptoms. Methods: Medial (MH) and lateral (LH) hypothalamic structural covariance alterations were identified in 57 subjects with obesity compared to 47 subjects without obesity. Gut dysbiosis in the subjects with obesity was defined by the presence of high (n = 28) and low (n = 29) values in a BMI-associated microbial signature, and posthoc comparisons between these groups were used as a proxy to explore the role of obesity-related gut dysbiosis on the hypothalamic measurements, executive function, and depressive symptoms. Results: Structural covariance alterations between the MH and the striatum, lateral prefrontal, cingulate, insula, and temporal cortices are congruent with previously functional connectivity disruptions in obesity conditions. MH structural covariance decreases encompassed postcentral parietal cortices in the subjects with obesity and gut-dysbiosis, but increases with subcortical nuclei involved in the coding food-related hedonic information in the subjects with obesity without gut-dysbiosis. Alterations for the structural covariance of the LH in the subjects with obesity and gut-dysbiosis encompassed increases with frontolimbic networks, but decreases with the lateral orbitofrontal cortex in the subjects with obesity without gut-dysbiosis. Subjects with obesity and gut dysbiosis showed higher executive dysfunction and depressive symptoms. Conclusions: Obesity-related gut dysbiosis is linked to specific structural covariance alterations in hypothalamic networks relevant to the integration of somatic-visceral information, and emotion regulation

    Evolution of the gut microbiome following acute HIV-1 infection

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    Background: In rhesus macaques, simian immunodeficiency virus infection is followed by expansion of enteric viruses but has a limited impact on the gut bacteriome. To understand the longitudinal effects of HIV-1 infection on the human gut microbiota, we prospectively followed 49 Mozambican subjects diagnosed with recent HIV-1 infection (RHI) and 54 HIV-1-negative controls for 9–18 months and compared them with 98 chronically HIV-1- infected subjects treated with antiretrovirals (n = 27) or not (n = 71). Results: We show that RHI is followed by increased fecal adenovirus shedding, which persists during chronic HIV-1 infection and does not resolve with ART. Recent HIV-1 infection is also followed by transient non-HIV-specific changes in the gut bacterial richness and composition. Despite early resilience to change, an HIV-1-specific signature in the gut bacteriome—featuring depletion of Akkermansia, Anaerovibrio, Bifidobacterium, and Clostridium—previously associated with chronic inflammation, CD8+ T cell anergy, and metabolic disorders, can be eventually identified in chronically HIV-1-infected subjects. Conclusions: Recent HIV-1 infection is associated with increased fecal shedding of eukaryotic viruses, transient loss of bacterial taxonomic richness, and long-term reductions in microbial gene richness. An HIV-1-associated microbiome signature only becomes evident in chronically HIV-1-infected subjects

    Inclusiva. Modelo de evaluación: enfoque y componentes

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    25 p.El modelo de evaluación INCLUSIVA que se describe a continuación, tiene por finalidad aportar información que oriente a las escuelas sobre qué acciones debieran adoptar para ser más inclusivas y conseguir que todos los estudiantes participen y aprendan independientemente de sus diferencias. El modelo tiene como fundamento que todas las personas tienen derecho a acceder a una educación de calidad que les permita su plena participación en todas las áreas de la vida social y el desarrollo de su proyecto de vida. Hacer efectivo este derecho implica que ha de ser garantizado a todos los seres humanos sin ningún tipo de discriminación. Garantizar la no discriminación y la plena participación en educación pasa necesariamente por el desarrollo de escuelas inclusivas que acojan a todos los niños y jóvenes de su comunidad y den respuesta a sus necesidades de aprendizaje. La inclusión está relacionada con el acceso, la participación y logros de todos los estudiantes, con especial énfasis en aquellos que, por diferentes razones, están excluidos o en riesgo de ser marginados constituyendo un impulso fundamental para avanzar en la agenda de educación para todos (UNESCO 2005). Alcanzar el objetivo de una educación de calidad para todos sin exclusiones exige ofrecer igualdad de oportunidades para que todos y cada uno de los estudiantes alcancen el máximo desarrollo de su potencial y se sientan integrados y valorados en su comunidad escolar. Las escuelas inclusivas tienen el desafío de proporcionar a cada persona los recursos y apoyos que necesita para que esté en igualdad de condiciones de aprovechar las oportunidades educativas. Numerosos estudios demuestran que las escuelas inclusivas aseguran la igualdad de oportunidades, logran mejores aprendizajes, son más innovadoras, muestran un mayor desarrollo profesional y enriquecen a la comunidad escolar.Material elaborado por la FUNDACIÓN HINENI en el marco del Proyecto FONDEF/Conicyt D041131

    Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

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    Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF.Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants.Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33-02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis.Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait

    Low nadir CD4+ T-cell counts predict gut dysbiosis in HIV-1 infection

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    Human immunodeficiency virus (HIV)-1 infection causes severe gut and systemic immune damage, but its effects on the gut microbiome remain unclear. Previous shotgun metagenomic studies in HIV-negative subjects linked low-microbial gene counts (LGC) to gut dysbiosis in diseases featuring intestinal inflammation. Using a similar approach in 156 subjects with different HIV-1 phenotypes, we found a strong, independent, dose-effect association between nadir CD4+ T-cell counts and LGC. As in other diseases involving intestinal inflammation, the gut microbiomes of subjects with LGC were enriched in gram-negative Bacteroides, acetogenic bacteria and Proteobacteria, which are able to metabolize reactive oxygen and nitrogen species; and were depleted in oxygen-sensitive methanogenic archaea and sulfate-reducing bacteria. Interestingly, subjects with LGC also showed increased butyrate levels in direct fecal measurements, consistent with enrichment in Roseburia intestinalis despite reductions in other butyrate producers. The microbiomes of subjects with LGC were also enriched in bacterial virulence factors, as well as in genes associated with beta-lactam, lincosamide, tetracycline, and macrolide resistance. Thus, low nadir CD4+ T-cell counts, rather than HIV-1 serostatus per se, predict the presence of gut dysbiosis in HIV-1 infected subjects. Such dysbiosis does not display obvious HIV-specific features; instead, it shares many similarities with other diseases featuring gut inflammation

    Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

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    Lisbon clinical group co-authors and IVIRMA group co-authors Ana Aguiar, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Carlos Calhaz-Jorge, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Joaquim Nunes, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Sandra Sousa (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal), and Sónia Correia (Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal); Maria Graça Pinto(Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal). Alberto Pacheco, (IVIRMA Madrid, Spain); Cristina González, (IVIRMA Sevilla, Spain); Susana Gómez, (IVIRMA Lisboa, Portugal); David Amorós, (IVIRMA Barcelona, Spain); Jesús Aguilar, (IVIRMA Vigo, Spain); Fernando Quintana, (IVIRMA Bilbao, Spain).Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF. Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants. Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33–02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis. Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait.This work was supported by the Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and Innovation (PID 2020-120157RB-I00) and the Andalusian Government through the research projects of “Plan Andaluz de Investigacion, Desarrollo e Innovacion (PAIDI 2020)” (ref. PY20_00212) and “Programa Operativo FEDER 2020” (ref. B-CTS-584-UGR20). LB-C was supported by the Spanish Ministry of Science and Innovation through the “Juan de la Cierva Incorporacion” program (Grant ref. IJC 2018-038026- I, funded by MCIN/AEI/10.13039/501100011033), which includes FEDER funds. AG-J was funded by MCIN/AEI/ 10.13039/501100011033 and FSE “El FSE invierte en tu futuro” (grant ref. FPU20/02926). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01-0145-FEDER-007274). PM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (UID/BIM/00009/2016 and UIDB/00009/2020). SL received support from Instituto de Salud Carlos III (grant: DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe-), and from “Generalitat de Catalunya” (grant 2017SGR191). SL is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of AG-J.info:eu-repo/semantics/publishedVersio

    Elevation and latitude drives structure and tree species composition in Andean forests: Results from a large-scale plot network

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    Our knowledge about the structure and function of Andean forests at regional scales remains limited. Current initiatives to study forests over continental or global scales still have important geographical gaps, particularly in regions such as the tropical and subtropical Andes. In this study, we assessed patterns of structure and tree species diversity along ~ 4000 km of latitude and ~ 4000 m of elevation range in Andean forests. We used the Andean Forest Network (Red de Bosques Andinos, https://redbosques.condesan.org/) database which, at present, includes 491 forest plots (totaling 156.3 ha, ranging from 0.01 to 6 ha) representing a total of 86,964 identified tree stems ≥ 10 cm diameter at breast height belonging to 2341 identified species, 584 genera and 133 botanical families. Tree stem density and basal area increases with elevation while species richness decreases. Stem density and species richness both decrease with latitude. Subtropical forests have distinct tree species composition compared to those in the tropical region. In addition, floristic similarity of subtropical plots is between 13 to 16% while similarity between tropical forest plots is between 3% to 9%. Overall, plots ~ 0.5-ha or larger may be preferred for describing patterns at regional scales in order to avoid plot size effects. We highlight the need to promote collaboration and capacity building among researchers in the Andean region (i.e., South-South cooperation) in order to generate and synthesize information at regional scale.Fil: Malizia, Agustina. Universidad Nacional de Tucumán. Instituto de Ecología Regional. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Ecología Regional; ArgentinaFil: Blundo, Cecilia Mabel. Universidad Nacional de Tucumán. Instituto de Ecología Regional. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Ecología Regional; ArgentinaFil: Carilla, Julieta. Universidad Nacional de Tucumán. Instituto de Ecología Regional. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Ecología Regional; ArgentinaFil: Osinaga Acosta, Oriana. Universidad Nacional de Tucumán. Instituto de Ecología Regional. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Ecología Regional; ArgentinaFil: Cuesta, Francisco. Universidad de Las Américas; Ecuador. Consorcio para el Desarrollo Sostenible de la Ecorregión Andina; EcuadorFil: Duque, Alvaro. Universidad Nacional de Colombia. Sede Medellín; ColombiaFil: Aguirre, Nikolay. Universidad Nacional de Loja. Centro de Investigaciones Tropicales del Ambiente y la Biodiversidad; EcuadorFil: Aguirre, Zhofre. Universidad Nacional de Loja. Centro de Investigaciones Tropicales del Ambiente y la Biodiversidad; EcuadorFil: Ataroff, Michele. Universidad de Los Andes; VenezuelaFil: Baez, Selene. Escuela Politécnica Nacional; EcuadorFil: Calderón Loor, Marco. Universidad de Las Américas; Ecuador. Deakin University; AustraliaFil: Cayola, Leslie. Herbario Nacional de Bolivia; Bolivia. Missouri Botanical Garden; Estados UnidosFil: Cayuela, Luis. Universidad Rey Juan Carlos; EspañaFil: Ceballos, Sergio Javier. Universidad Nacional de Tucumán. Instituto de Ecología Regional. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Ecología Regional; ArgentinaFil: Cedillo, Hugo. Universidad de Cuenca; EcuadorFil: Farfán Ríos, William. Universidad Nacional de San Antonio Abad del Cusco. Herbario Vargas; PerúFil: Feeley, Kenneth J.. University of Miami; Estados UnidosFil: Fuentes, Alfredo Fernando. Herbario Nacional de Bolivia; Bolivia. Missouri Botanical Garden; Estados UnidosFil: Gámez Álvarez, Luis E.. Universidad de Los Andes; VenezuelaFil: Grau, Hector Ricardo. Universidad Nacional de Tucumán. Instituto de Ecología Regional. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Ecología Regional; ArgentinaFil: Homeier, Juergen. Universität Göttingen; AlemaniaFil: Jadan, Oswaldo. Universidad de Cuenca; EcuadorFil: Llambi, Luis Daniel. Escuela Politécnica Nacional; EcuadorFil: Loza Rivera, María Isabel. University of Missouri; Estados Unidos. Herbario Nacional de Bolivia; Bolivia. Missouri Botanical Garden; Estados UnidosFil: Macía, Manuel J.. Universidad Autónoma de Madrid; EspañaFil: Malhi, Yadvinder. University of Oxford; Reino UnidoFil: Malizia, Lucio Ricardo. Universidad Nacional de Jujuy. Facultad de Ciencias Agrarias; ArgentinaFil: Peralvo, Manuel. Consorcio para el Desarrollo Sostenible de la Ecorregión Andina; EcuadorFil: Pinto, Esteban. Consorcio para el Desarrollo Sostenible de la Ecorregión Andina; EcuadorFil: Tello, Sebastián. Missouri Botanical Garden; Estados UnidosFil: Silman, Miles. Center for Energy, Environment and Sustainability; Estados UnidosFil: Young, Kenneth R.. University of Texas at Austin; Estados Unido

    Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

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    Funding Information: Funding: This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018– 038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01–0145-FEDER-007274). AML is funded by the Portuguese Government through FCT (IF/01262/2014). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba received support from Instituto de Salud Carlos III (grant DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)—a way to build Europe), and from “Generalitat de Catalunya” (grant 2017SGR191). SLarriba is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORaddrs2287839 = 1.85 (1.17–2.93), ORaddrs2233678 = 1.62 (1.11–2.36), ORaddrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.publishersversionpublishe
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