Page 69 - CIBERESP2016-ENG

Most relevant scientific articles
• Abuli A., Boada M., Rodríguez-Santiago B., Coroleu B., Veiga A., Armengol L. et al. NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. Human Mutation. 2016.
• Prasad A., Rabionet R., Espinet B., Zapata L., Puiggros A., Melero C. et al. Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome. Journal of Investigative Dermatology. 2016;136(7):1490-1499.
• Marti E. RNA toxicity induced by expanded CAG repeats in Huntington’s disease. Brain Pathology. 2016;26(6):779-786.
• Morales E, Vilahur N, Salas LA, Motta V, Fernández MF, Murcia M et al. Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy. International journal of epidemiology. 2016;45(5):1644-1655.
• Bustamante M, Standl M, Bassat Q, Vilor-Tejedor N, Medina-Gómez C, Bonilla C et al. A genome- wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. Human molecular genetics. 2016.
Highlights
During 2016 we continued our participation in the Early Growth Genetics (EGG, http://egg-consortium.org/) and The Early Genetics and Lifecourse Epidemiology Consortium (EAGLE, http://www.wikigenes.org/e/ art/E/348.html) with the GWAS data from the INMA birth cohort (Childhood and Environment, http://www. proyectoinma.org /).
Gene expression and miRNA data were generated in whole blood from 1300 samples from the European HELIX project (http://www.projecthelix.eu/) and we coordinated the generation of methylation data and quality control.
We have collaborated with the Pan Cancer Analysis of Whole Genomes consortium and, as part of the PanCanRisk project, in the study of germline variants in 2800 patients with different cancers. In this study, we have applied rare variant association studies to identify genes and regulatory regions potentially involved in the risk to develop certain types of cancer. A study has been designed where the identified variants will be replicated the MCC-Spain cohort.
As a result of the collaboration in the Chronic Lymphocytic Leukemia Genome Project (LLC), we have analyzed the germline of 480 exomes of CLL patients and compared them to 780 exomes of cancer-free samples. We identified 43 genes that could potentially be involved in the susceptibility to the LLC.
The study of association of rare exonic variants with the risk of developing obsessive-compulsive disorder has identified potential candidate genes, and we have initiated functional studies for one of these genes. Within the DecocD project, we have obtained a fecal and amygdala sample of 30 cases of obsessive- compulsive disorder on which a longitudinal study is being performed.
Finally, in the study of variants associated with stroke recovery, we have identified and replicated variants in two different regions associated with a better recovery, which will be further studied during 2017.
ESP
Research groups 69