TOSCA-based orchestration of complex clusters at the IaaS level

[EN] This paper describes the adoption and extension of the TOSCA standard by the INDIGO-DataCloud project for the definition and deployment of complex computing clusters together with the required support in both OpenStack and OpenNebula, carried out in close collaboration with industry partners such as IBM. Two examples of these clusters are described in this paper, the definition of an elastic computing cluster to support the Galaxy bioinformatics application where the nodes are dynamically added and removed from the cluster to adapt to the workload, and the definition of an scalable Apache Mesos cluster for the execution of batch jobs and support for long-running services. The coupling of TOSCA with Ansible Roles to perform automated installation has resulted in the definition of high-level, deterministic templates to provision complex computing clusters across different Cloud sites.The authors would like to thank the European Commission for the financial support for project INDIGO-DataCloud (RIA 653549)Caballer Fernández, M.; Donvito, G.; Moltó, G.; Rocha, R.; Velten, M. (2017). TOSCA-based orchestration of complex clusters at the IaaS level. Journal of Physics: Conference Series (Online). 898:1-8. https://doi.org/10.1088/1742-6596/898/8/082036S1889

FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies

<p>Abstract</p> <p>Background</p> <p>Schizophrenia is considered a language related human specific disease. Previous studies have reported evidence of positive selection for schizophrenia-associated genes specific to the human lineage. <it>FOXP2 </it>shows two important features as a convincing candidate gene for schizophrenia vulnerability: <it>FOXP2 </it>is the first gene related to a language disorder, and it has been subject to positive selection in the human lineage.</p> <p>Methods</p> <p>Twenty-seven SNPs of <it>FOXP2 </it>were genotyped in a cohort of 293 patients with schizophrenia and 340 controls. We analyzed in particular the association with the poverty of speech and the intensity of auditory hallucinations. Potential expansion of three trinucleotide repeats of <it>FOXP2 </it>was also screened in a subsample. Methylation analysis of a CpG island, located in the first exon of the gene, was performed in post-mortem brain samples, as well as qRT-PCR analysis.</p> <p>Results</p> <p>A significant association was found between the SNP rs2253478 and the item Poverty of speech of the Manchester scale (p = 0.038 after Bonferroni correction). In patients, we detected higher degree of methylation in the left parahippocampus gyrus than in the right one.</p> <p>Conclusions</p> <p><it>FOXP2 </it>might be involved in the language disorder in patients with schizophrenia. Epigenetic factors might be also implicated in the developing of this disorder.</p

Multi-elastic Datacenters: Auto-scaled Virtual Clusters on Energy-Aware Physical Infrastructures

[EN] Computer clusters are widely used platforms to execute different computational workloads. Indeed, the advent of virtualization and Cloud computing has paved the way to deploy virtual elastic clusters on top of Cloud infrastructures, which are typically backed by physical computing clusters. In turn, the advances in Green computing have fostered the ability to dynamically power on the nodes of physical clusters as required. Therefore, this paper introduces an open-source framework to deploy elastic virtual clusters running on elastic physical clusters where the computing capabilities of the virtual clusters are dynamically changed to satisfy both the user application's computing requirements and to minimise the amount of energy consumed by the underlying physical cluster that supports an on-premises Cloud. For that, we integrate: i) an elasticity manager both at the infrastructure level (power management) and at the virtual infrastructure level (horizontal elasticity); ii) an automatic Virtual Machine (VM) consolidation agent that reduces the amount of powered on physical nodes using live migration and iii) a vertical elasticity manager to dynamically and transparently change the memory allocated to VMs, thus fostering enhanced consolidation. A case study based on real datasets executed on a production infrastructure is used to validate the proposed solution. The results show that a multi-elastic virtualized datacenter provides users with the ability to deploy customized scalable computing clusters while reducing its energy footprint.The results of this work have been partially supported by ATMOSPHERE (Adaptive, Trustworthy, Manageable, Orchestrated, Secure, Privacy-assuring Hybrid, Ecosystem for Resilient Cloud Computing), funded by the European Commission under the Cooperation Programme, Horizon 2020 grant agreement No 777154.Alfonso Laguna, CD.; Caballer Fernández, M.; Calatrava Arroyo, A.; Moltó, G.; Blanquer Espert, I. (2018). Multi-elastic Datacenters: Auto-scaled Virtual Clusters on Energy-Aware Physical Infrastructures. Journal of Grid Computing. 17(1):191-204. https://doi.org/10.1007/s10723-018-9449-zS191204171Buyya, R.: High Performance Cluster Computing: Architectures and Systems. Prentice Hall PTR, Upper Saddle River (1999)de Alfonso, C., Caballer, M., Alvarruiz, F., Moltó, G.: An economic and energy-aware analysis of the viability of outsourcing cluster computing to the cloud. Futur. Gener. Comput. Syst. (Int. J. Grid Comput eScience) 29, 704–712 (2013). https://doi.org/10.1016/j.future.2012.08.014Williams, D., Jamjoom, H., Liu, Y.H., Weatherspoon, H.: Overdriver: handling memory overload in an oversubscribed cloud. ACM SIGPLAN Not. 46(7), 205 (2011). https://doi.org/10.1145/2007477.1952709 . http://dl.acm.org/citation.cfm?id=2007477.1952709Valentini, G., Lassonde, W., Khan, S., Min-Allah, N., Madani, S., Li, J., Zhang, L., Wang, L., Ghani, N., Kolodziej, J., Li, H., Zomaya, A., Xu, C.Z., Balaji, P., Vishnu, A., Pinel, F., Pecero, J., Kliazovich, D., Bouvry, P.: An overview of energy efficiency techniques in cluster computing systems. Clust. Comput. 16(1), 3–15 (2013). https://doi.org/10.1007/s10586-011-0171-xDe Alfonso, C., Caballer, M., Hernández, V.: Efficient power management in high performance computer clusters. In: Proceedings of the 1st International Multi-conference on Innovative Developments in ICT, Proceedings of the International Conference on Green Computing 2010 (ICGreen 2010), 39–44 (2010)OpenNebula: OpenNebula Cloud Software https://opennebula.org/ . [Online; accessed 12-June-2017]OpenStack: OpenStack Cloud Software. http://openstack.org . [Online; accessed 12 June 2017]VMWare: VMWare vCenter Server. https://www.vmware.com/products/vcenter-server.html . [Online; accessed 12 June 2017]De Alfonso, C., Blanquer, I.: Automatic consolidation of virtual machines in on-premises cloud platforms. In: IEEE/ACM International Symposium on Cluster, Cloud and Grid Computing, pp 1070–1079 (2017). https://doi.org/10.1109/CCGRID.2017.128Chase, J.S., Irwin, D.E., Grit, L.E., Moore, J.D., Sprenkle, S.E.: Dynamic virtual clusters in a grid site manager. In: Proceedings of the 12th IEEE International Symposium on High Performance Distributed Computing, HPDC ’03, p 90. IEEE Computer Society, Washington, DC (2003). http://dl.acm.org/citation.cfm?id=822087.823392Doelitzscher, F., Held, M., Reich, C., Sulistio, A.: Viteraas: Virtual cluster as a service. In: 2011 IEEE Third International Conference on Cloud Computing Technology and Science (CloudCom), pp 652–657 (2011). https://doi.org/10.1109/CloudCom.2011.101Wei, X., Wang, H., Li, H., Zou, L.: Dynamic deployment and management of elastic virtual clusters. In: 2011 Sixth Annual Chinagrid Conference (ChinaGrid), pp 35–41 (2011). https://doi.org/10.1109/ChinaGrid.2011.31de Assuncao, M.D., di Costanzo, A., Buyya, R.: Evaluating the cost-benefit of using cloud computing to extend the capacity of clusters. In: Proceedings of the 18th ACM International Symposium on High Performance Distributed Computing, HPDC ’09, pp 141–150. ACM, New York (2009). https://doi.org/10.1145/1551609.1551635 . http://doi.acm.org/10.1145/1551609.1551635Marshall, P., Keahey, K., Freeman, T.: Elastic site: Using clouds to elastically extend site resources. In: 2010 10th IEEE/ACM International Conference on Cluster, Cloud and Grid Computing (CCGrid), pp 43–52 (2010). https://doi.org/10.1109/CCGRID.2010.80Niu, S., Zhai, J., Ma, X., Tang, X., Chen, W.: Cost-effective cloud hpc resource provisioning by building semi-elastic virtual clusters. In: Proceedings of the International Conference on High Performance Computing, Networking, Storage and Analysis, SC ’13, pp 56:1–56:12. ACM, New York (2013). https://doi.org/10.1145/2503210.2503236 . http://doi.acm.org/10.1145/2503210.2503236Bialecki, A., Cafarella, M., Cutting, D., Omalley, O.: Hadoop: a framework for running applications on large clusters built of commodity hardware. Tech. rep. Apache Hadoop. http://hadoop.apache.org (2005)MIT: StarCluster Elastic Load Balancer. http://web.mit.edu/stardev/cluster/docs/0.92rc2/manual/load_balancer.htmlAppliance, C.C.S.: Creating elastic virtual clusters. http://cernvm.cern.ch/portal/elasticclusters (2015)Research project, T.G.: The games research project. http://www.green-datacenters.eu (2013)Cioara, T., Anghel, I., Salomie, I., Copil, G., Moldovan, D., Kipp, A.: Energy aware dynamic resource consolidation algorithm for virtualized service centers based on reinforcement learning. In: 2011 10th International Symposium on Parallel and Distributed Computing (ISPDC), pp 163–169 (2011). https://doi.org/10.1109/ISPDC.2011.32Farahnakian, F., Liljeberg, P., Plosila, J.: Energy-efficient virtual machines consolidation in cloud data centers using reinforcement learning. In: 2014 22nd Euromicro International Conference on Parallel, Distributed and Network-Based Processing (PDP), pp 500–507 (2014). https://doi.org/10.1109/PDP.2014.109Masoumzadeh, S., Hlavacs, H.: Integrating vm selection criteria in distributed dynamic vm consolidation using fuzzy q-learning. In: 2013 9th International Conference on Network and Service Management (CNSM), pp 332–338 (2013). https://doi.org/10.1109/CNSM.2013.6727854Feller, E., Rilling, L., Morin, C.: Energy-aware ant colony based workload placement in clouds. In: 2011 12th IEEE/ACM International Conference on Grid Computing (GRID), pp 26–33 (2011). https://doi.org/10.1109/Grid.2011.13Pop, C.B., Anghel, I., Cioara, T., Salomie, I., Vartic, I.: A swarm-inspired data center consolidation methodology. In: Proceedings of the 2nd International Conference on Web Intelligence, Mining and Semantics, WIMS ’12, pp 41:1–41:7. ACM, New York (2012). https://doi.org/10.1145/2254129.2254180Marzolla, M., Babaoglu, O., Panzieri, F.: Server consolidation in clouds through gossiping. In: Proceedings of the 2011 IEEE International Symposium on a World of Wireless, Mobile and Multimedia Networks, WOWMOM ’11, pp 1–6. IEEE Computer Society, Washington, DC (2011). https://doi.org/10.1109/WoWMoM.2011.5986483Ghafari, S., Fazeli, M., Patooghy, A., Rikhtechi, L.: Bee-mmt: A load balancing method for power consumption management in cloud computing. In: 2013 Sixth International Conference on Contemporary Computing (IC3), pp 76–80 (2013). https://doi.org/10.1109/IC3.2013.6612165Ajiro, Y., Tanaka, A.: Improving packing algorithms for server consolidation. In: International CMG Conference, pp. 399–406. Computer Measurement Group (2007)Verma, A., Ahuja, P., Neogi, A.: pmapper: power and migration cost aware application placement in virtualized systems. In: Proceedings of the 9th ACM/IFIP/USENIX International Conference on Middleware, Middleware ’08, pp 243–264. Springer, New York (2008)Beloglazov, A., Abawajy, J., Buyya, R.: Energy-aware resource allocation heuristics for efficient management of data centers for cloud computing. Future Gener. Comput. Syst. 28 (5), 755–768 (2012). https://doi.org/10.1016/j.future.2011.04.017Guazzone, M., Anglano, C., Canonico, M.: Exploiting vm migration for the automated power and performance management of green cloud computing systems. In: Proceedings of the First International Conference on Energy Efficient Data Centers, E2DC’12, pp 81–92. Springer, Berlin (2012). https://doi.org/10.1007/978-3-642-33645-4_8Shi, L., Furlong, J., Wang, R.: Empirical evaluation of vector bin packing algorithms for energy efficient data centers. In: 2013 IEEE Symposium on Computers and Communications (ISCC), pp 000,009–000,015 (2013). https://doi.org/10.1109/ISCC.2013.6754915Tomás, L., Tordsson, J.: Improving cloud infrastructure utilization through overbooking. In: Proceedings of the 2013 ACM Cloud and Autonomic Computing Conference on - CAC ’13, p 1. ACM Press, New York (2013). https://doi.org/10.1145/2494621.2494627Dawoud, W., Takouna, I., Meinel, C.: Elastic vm for cloud resources provisioning optimization. In: Abraham, A., Lloret Mauri, J., Buford, J., Suzuki, J., Thampi, S. (eds.) Advances in Computing and Communications, Communications in Computer and Information Science, vol. 190, pp 431–445. Springer, Berlin (2011). https://doi.org/10.1007/978-3-642-22709-7_43Tasoulas, E., Haugerund, H.R., Begnum, K.: Bayllocator: a proactive system to predict server utilization and dynamically allocate memory resources using Bayesian networks and ballooning. In: Proceedings of the 26th International Conference on Large Installation System Administration: Strategies, Tools, and Techniques, pp. 111–122. USENIX Association (2012)Hines, M.R., Gordon, A., Silva, M., Da Silva, D., Ryu, K., Ben-Yehuda, M.: Applications know best: performance-driven memory overcommit with Ginkgo. In: 2011 IEEE Third International Conference on Cloud Computing Technology and Science, pp. 130–137. IEEE. https://doi.org/10.1109/CloudCom.2011.27 (2011)Litke, A.: Manage resources on overcommitted KVM hosts. Tech. rep. IBM. http://www.ibm.com/developerworks/library/l-overcommit-kvm-resources/ (2011)De Alfonso, C., Caballer, M., Alvarruiz, F., Hernández, V.: An energy management system for cluster infrastructures. Comput. Electr. Eng. 39(8), 2579–2590 (2013). https://doi.org/10.1016/j.compeleceng.2013.05.004Moltó, G., Caballer, M, de Alfonso, C.: Automatic memory-based vertical elasticity and oversubscription on cloud platforms. Futur. Gener. Comput. Syst. 56, 1–10 (2016). https://doi.org/10.1016/j.future.2015.10.002Calatrava, A., Romero, E., Moltó, G., Caballer, M., Alonso, J.M.: Self-managed cost-efficient virtual elastic clusters on hybrid Cloud infrastructures. Futur. Gener. Comput. Syst. 61, 13–25 (2016). https://doi.org/10.1016/j.future.2016.01.018 . http://authors.elsevier.com/sd/article/S0167739X16300024 , http://linkinghub.elsevier.com/retrieve/pii/S0167739X16300024Caballer, M., Chatziangelou, M., Calatrava, A., Moltó, G., Pérez, A.: IM integration in the EGI VMOps Dashboard. In: EGI Conference 2017 and INDIGO Summit 2017 (2017)Calatrava, A., Caballer, M., Moltó, G., Pérez, A.: Virtual Elastic Clusters in the EGI LToS with EC3. In: EGI Conference 2017 and INDIGO Summit 2017 (2017)Iosup, A., Li, H., Jan, M., Anoep, S., Dumitrescu, C., Wolters, L., Epema, D.H.: The grid workloads archive. Futur. Gener. Comput. Syst. 24(7), 672–686 (2008). https://doi.org/10.1016/j.future.2008.02.003 . http://www.sciencedirect.com/science/article/pii/S0167739X08000125Nordugrid dataset, the grid workloads archive (Online; accessed 27-March-2017). http://gwa.ewi.tudelft.nl/datasets/gwa-t-3-nordugrid/report/Caballer, M., Blanquer, I., Moltó, G., de Alfonso, C: Dynamic Management of Virtual Infrastructures. J. Grid Comput. 13, 53–70 (2015). https://doi.org/10.1007/s10723-014-9296-5 . http://link.springer.com/article/10.1007/s10723-014-9296-

Técnicas endoscópicas bariátricas primarias en personas adultas con o sin diabetes mellitus tipo 2

Tècniques endoscòpiques bariàtriques; Adults; Diabetis mellitus tipus 2Técnicas endoscópicas bariátricas; Adultos; Diabetes mellitus tipo 2Bariatric endoscopic techniques; Adults; Diabetes mellitus type 2L'objectiu d’aquest informe és identificar i avaluar l’evidència disponible sobre l’eficàcia, efectivitat i seguretat de les tècniques endoscòpiques en el tractament primari de persones adultes amb obesitat, amb DM tipus 2 o sense, i formular recomanacions sobre la seva inclusió o no a la Cartera Comú de Serveis del Sistema Nacional de Salut espanyol.El objetivo de este informe es identificar y evaluar la evidencia disponible sobre la eficacia, efectividad y seguridad de las técnicas endoscópicas en el tratamiento primario de personas adultas con obesidad con o sin DM tipo 2 y formular recomendaciones sobre su inclusión o no en la cartera de servicios comunes del Sistema Nacional de Salud español.The aim of this report is to identify and evaluate all available evidence on efficacy, effectiveness and security of endoscopic techniques in primary treatment of adults with obesity with or without type 2 DM and to draw up recommendations on including them or not in the Health Portfolio of the Spanish National Health System

Evaluación de la seguridad, eficacia/efectividad y eficiencia de la teleconsulta en atención primaria, y de los aspectos organizativos, éticos, sociales y legales ligados a su uso

Atenció primària; Teleconsulta; AvaluacióAtención primaria; Teleconsulta; EvaluaciónPrimary care; Teleconsultation; EvaluationL'atenció primària de salut actualment s’enfronta a una limitació en recursos, sobretot econòmics i de força de treball. A més, la pandèmia pel coronavirus SARS-CoV-2 (COVID-19) ha posat de manifest més que mai la importància de poder atendre pacients de manera remota (a distància). La teleconsulta (entesa com la comunicació a distància entre professional de la salut i pacient, bé de forma síncrona a través de videotrucada, trucada telefònica o missatgeria instantània, o bé de forma asíncrona a través de correu electrònic en plataformes segures, eConsulta o similar) es planteja com una possible eina que podria ajudar a estalviar recursos econòmics i de disponibilitat de temps a tots els actors que formen part de la cadena de valor, mantenir o millorar la qualitat de l’atenció (resultats en salut) i l’experiència de l’usuari, i garantir la futura viabilitat dels serveis d’atenció primària.La atención primaria de salud se enfrenta actualmente a una limitación en recursos, sobre todo económicos y de fuerza de trabajo. Además, la pandemia por el coronavirus SARS-CoV-2 (COVID19) ha puesto de manifiesto más que nunca la importancia de poder atender a pacientes de forma remota (a distancia). La teleconsulta (entendida como la comunicación a distancia entre profesional de la salud y paciente, bien de forma síncrona a través de videollamada, llamada telefónica o mensajería instantánea, bien de forma asíncrona a través de correo electrónico en plataformas seguras, eConsulta o similar) se plantea como una posible herramienta que podría ayudar a ahorrar recursos económicos y de disponibilidad de tiempo a todos los actores que forman parte de la cadena de valor, manteniendo o mejorando la calidad de la atención (resultados en salud) y la experiencia del usuario, y garantizando la viabilidad futura de los servicios de atención primaria.Primary healthcare is currently facing a restriction of available resources, especially in terms of finances and workforce. In addition, the SARS-CoV-2 coronavirus pandemic (COVID-19) has highlighted more than ever the importance of being able to care for patients remotely. Teleconsultation (understood as remote communication between health professional and patient, either synchronously via video call, telephone call or instant messaging, or asynchronously via email on secure platforms, eConsultation or similar) is seen as a possible tool that could help save financial resources and time availability for all the actors involved in the value chain, maintaining or improving the quality of care (health outcomes) and the user experience, and guaranteeing the future viability of primary care services

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Background: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL). Results: Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5–40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a median height of 118 (IQR: 106–136) cm. Other frequent clinical manifestations were hearing loss (75.7%), ligamentous laxity (72.7%), odontoid dysplasia (69.7%), limb deformities that required orthopaedic aids (mainly hip dysplasia and genu valgus) (63.6%), and corneal clouding (60.6%). In addition, 36.0% of patients had obstructive sleep apnoea/hypopnoea syndrome and 33.3% needed non-invasive ventilation. Cervical surgery and varisation osteotomy were the most common surgical interventions (36.4% each). Almost 80% of patients had mobility problems and 36.4% used a wheelchair at all times. Furthermore, 87.9% needed help with self-care, 33.3% were fully dependent, and 78.8% had some degree of pain. HRQoL according to the health assessment questionnaire was 1.43 (IQR: 1.03–2.00) in patients with the non-classical phenotype, but 2.5 (IQR: 1.68–3.00) in those with the classical phenotype. Seven patients were initiated on enzyme replacement therapy (ERT), but two of them were lost to follow-up. Lung function improved in four patients and slightly worsened in one patient. The distance achieved in the six-minute walk test increased in the four patients who could perform it. HRQoL was better in patients treated with elosulfase alfa, with a median (IQR) of 1.75 (1.25–2.34) versus 2.25 (1.62–3.00) in patients not treated with ERT. Conclusions: The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams

Intra-articular injection of two different doses of autologous bone marrow mesenchymal stem cells versus hyaluronic acid in the treatment of knee osteoarthritis: long-term follow up of a multicenter randomized controlled clinical trial (phase I/II)

Background: Mesenchymal stromal cells (MSCs) are a promising option to treat knee osteoarthritis (OA). Their safety and usefulness have been reported in several short-term clinical trials but less information is available on the longterm efects of MSC in patients with osteoarthritis. We have evaluated patients included in our previous randomized clinical trial (CMM-ART, NCT02123368) to determine their long-term clinical efect. Materials: A phase I/II multicenter randomized clinical trial with active control was conducted between 2012 and 2014. Thirty patients diagnosed with knee OA were randomly assigned to Control group, intraarticularly administered hyaluronic acid alone, or to two treatment groups, hyaluronic acid together with 10×106 or 100×106 cultured autol‑ ogous bone marrow-derived MSCs (BM-MSCs), and followed up for 12 months. After a follow up of 4 years adverse efects and clinical evolution, assessed using VAS and WOMAC scorings are reported. Results: No adverse efects were reported after BM-MSCs administration or during the follow-up. BM-MSCs-adminis‑ tered patients improved according to VAS, median value (IQR) for Control, Low-dose and High-dose groups changed from 5 (3, 7), 7 (5, 8) and 6 (4, 8) to 7 (6, 7), 2 (2, 5) and 3 (3, 4), respectively at the end of follow up (Low-dose vs Control group, p=0.01; High-dose vs Control group, p=0.004). Patients receiving BM-MSCs also improved clinically accord‑ ing to WOMAC. Control group showed an increase median value of 4 points (−11;10) while Low-dose and Highdose groups exhibited values of −18 (−28;−9) and −10 (−21;−3) points, respectively (Low-dose vs Control group p=0.043). No clinical diferences between the BM-MSCs receiving groups were found. Conclusions: Single intraarticular injection of in vitro expanded autologous BM-MSCs is a safe and feasible proce‑ dure that results in long-term clinical and functional improvement of knee OA

Genetic Variants of the FADS Gene Cluster and ELOVL Gene Family, Colostrums LC-PUFA Levels, Breastfeeding, and Child Cognition

Introduction: Breastfeeding effects on cognition are attributed to long-chain polyunsaturated fatty acids (LC-PUFAs), but controversy persists. Genetic variation in fatty acid desaturase (FADS) and elongase (ELOVL) enzymes has been overlooked when studying the effects of LC-PUFAs supply on cognition. We aimed to: 1) to determine whether maternal genetic variants in the FADS cluster and ELOVL genes contribute to differences in LC-PUFA levels in colostrum; 2) to analyze whether these maternal variants are related to child cognition; and 3) to assess whether children's variants modify breastfeeding effects on cognition. Methods: Data come from two population-based birth cohorts (n = 400 mother-child pairs from INMA-Sabadell; and n = 340 children from INMA-Menorca). LC-PUFAs were measured in 270 colostrum samples from INMA-Sabadell. Tag SNPs were genotyped both in mothers and children (13 in the FADS cluster, 6 in ELOVL2, and 7 in ELOVL5). Child cognition was assessed at 14 mo and 4 y using the Bayley Scales of Infant Development and the McCarthy Scales of Children"s Abilities, respectively. Results: Children of mothers carrying genetic variants associated with lower FADS1 activity (regulating AA and EPA synthesis), higher FADS2 activity (regulating DHA synthesis), and with higher EPA/AA and DHA/AA ratios in colostrum showed a significant advantage in cognition at 14 mo (3.5 to 5.3 points). Not being breastfed conferred an 8- to 9-point disadvantage in cognition among children GG homozygote for rs174468 (low FADS1 activity) but not among those with the A allele. Moreover, not being breastfed resulted in a disadvantage in cognition (5 to 8 points) among children CC homozygote for rs2397142 (low ELOVL5 activity), but not among those carrying the G allele. Conclusion: Genetically determined maternal supplies of LC-PUFAs during pregnancy and lactation appear to be crucial for child cognition. Breastfeeding effects on cognition are modified by child genetic variation in fatty acid desaturase and elongase enzymes

Genetic Variants of the FADS Gene Cluster and ELOVL Gene Family, Colostrums LC-PUFA Levels, Breastfeeding, and Child Cognition

Introduction: Breastfeeding effects on cognition are attributed to long-chain polyunsaturated fatty acids (LC-PUFAs), but controversy persists. Genetic variation in fatty acid desaturase (FADS) and elongase (ELOVL) enzymes has been overlooked when studying the effects of LC-PUFAs supply on cognition. We aimed to: 1) to determine whether maternal genetic variants in the FADS cluster and ELOVL genes contribute to differences in LC-PUFA levels in colostrum; 2) to analyze whether these maternal variants are related to child cognition; and 3) to assess whether children's variants modify breastfeeding effects on cognition. Methods: Data come from two population-based birth cohorts (n = 400 mother-child pairs from INMA-Sabadell; and n = 340 children from INMA-Menorca). LC-PUFAs were measured in 270 colostrum samples from INMA-Sabadell. Tag SNPs were genotyped both in mothers and children (13 in the FADS cluster, 6 in ELOVL2, and 7 in ELOVL5). Child cognition was assessed at 14 mo and 4 y using the Bayley Scales of Infant Development and the McCarthy Scales of Children"s Abilities, respectively. Results: Children of mothers carrying genetic variants associated with lower FADS1 activity (regulating AA and EPA synthesis), higher FADS2 activity (regulating DHA synthesis), and with higher EPA/AA and DHA/AA ratios in colostrum showed a significant advantage in cognition at 14 mo (3.5 to 5.3 points). Not being breastfed conferred an 8- to 9-point disadvantage in cognition among children GG homozygote for rs174468 (low FADS1 activity) but not among those with the A allele. Moreover, not being breastfed resulted in a disadvantage in cognition (5 to 8 points) among children CC homozygote for rs2397142 (low ELOVL5 activity), but not among those carrying the G allele. Conclusion: Genetically determined maternal supplies of LC-PUFAs during pregnancy and lactation appear to be crucial for child cognition. Breastfeeding effects on cognition are modified by child genetic variation in fatty acid desaturase and elongase enzymes