Duration: 2016-2017
Abstract: Obesity is a major health problem worldwide, associated with environment factors but having also a strong genetic component. To date >50 frequent SNPs were found to be associated with obesity-related traits by genome-wide association studies (GWAS). SNP GWAS have provided valuable insights into the genetic basis of obesity. However, all together explain only 2-3% of BMI variation, far from the 40-70% estimated heritability of obesity. It has recently been suggested that rare and low frequency alleles, as well as copy number variants (CNVs) could contribute to the lack of missing heritability in the genetic basis of obesity. However, these types of variation are not captured in current GWAS. Thus, the main objective of this project is to sequence the whole exome of 15 extreme obese individuals (BMI>45kg/m2) from European (CEU) ancestry and to compare all detected genetic variants with those obtained from around 400 CEU control individuals from 1000genomes database. So, an investigate between the association of anthropometric measures related to obesity with low frequency alleles and CNVs detected will be performed. At the end of this study, we expect to identify new candidate loci that can play a key factor in the etiology of obesity.
Coordinator (PI): Raquel Rodríguez-López (HUGV, Spain)
Participants: David Albuquerque (CIAS), Fátima Gimeno Ferrer (FIHGUV), Carolina Monzó Cataluña (FIHGV), Goitzane Marcaida Benito (HGUV), Marcos Bruna (HGUV), Carlos Sánchez (HGUV), Carola Guzmán Luján (HGUV), Laura Gandía Artigues (HGUV)
Finantial support: Fundación Investigación Hospital Universitario General de Valencia (Spain). P20.
Duration: 2015 – 2023
Abstract: To identify genetic variants associated with common obesity by analysing candidate genes in large population samples and to investigate whether environmental factors such as physical activity modulates the effects of the genetic variants on obesity and obesity-related variables.
We propose to use next-generation sequencing (NGS) technology to identify novel rare genetic variants or genes influencing the development of severe early onset obesity through a customized gene panel.
Coordinator (PI): Licínio Manco
Participants: Licínio Manco (CIAS), David Albuquerque (CIAS), Cristina Padez (CIAS)
Financial support: Post-Doc Grant: Fundação para a Ciência e Tecnologia SFRH/BPD/109043/2015 (David Albuquerque); FCT: PTDC/DTP-SAP/1520/2014; FCT-CIAS: UID/ANT/00283/2019 (Portugal)
Duration: 2014-2020
Abstract: To evaluate the association of genetic variants at the HBG2, BCL11A, HMIP or other loci with HbF levels in beta-thalassemia carriers and in normal individuals of Portuguese origin.
Coordinator: Licínio Manco (CIAS)
Participants: Licínio Manco (CIAS), Clara Pereira, Celeste Bento (CIAS), Augusto Abade, M Letícia Ribeiro (CIAS)
Financial support: CIAS
Duration: 2014-2018
Abstract: Several studies emerged associating single nucleotide polymorphisms (SNPs) in common obesity in about 50 loci across the human genome, most of them in adults. Nevertheless, candidate and replication studies of obesity loci among Portuguese population are missing as well as their associations with behavioural and social conditions. Candidate loci will be analysed in a large sample of Portuguese young-adults undergoing obesity-related anthropometric and body fat composition measurements, aiming to better characterize the obese phenotype in the population and assess the interaction with physical activity.
Coordinator: Licínio Manco (CIAS)
Participants: Licínio Manco (CIAS), Cristina Padez (CIAS), David Albuquerque (CIAS)
Financial support: CIAS
Duration: 2010-2018
Abstract: The main objectives of this project are: 1) to identify mutations in genes such as G6PD, PK, TPI, P5N, HK or GPI leading to red cell enzyme deficiencies in Portuguese patients; and 2) to understand signatures of selective (malaria) or demographic events underlying mutated allele distribution
Coordinator: Licínio Manco
Participants: Licínio Manco (CIAS), Letícia Ribeiro (CIAS), Celeste Bento (CIAS), Luís Relvas, Janet Pereira (CIAS), Ana Paula Arez (CIAS)
Financial support: CIAS; Forum hematologico
Duration: 2010-2015
Abstract: The main goal of this project is to analyse candidate genetic variants in a sample of Portuguese children, in order to identify genetic variability that could explain the obese phenotype.
Coordinator: David Albuquerque
Supervisor: Licínio Manco
Financial support: CIAS, FCT
Reference: SFRH/BD/68774/2010
Duration: 2010-2014
Abstract: To examine haplotypes of the major mutations in the HFE gene associated with hemochromatosis in Portuguese patients
Coordinator: Licínio Manco (CIAS)
Participants: Licínio Manco (CIAS), Sandra Toste, M Letícia Ribeiro (CIAS)
Financial support: CIAS
Duration: 2010-2013
Abstract: To examine genetic variation proposed to be involved in adult lactase persistence in the general Portuguese population and in adult individuals with unspecific gastrointestinal complaints associated with milk consumption.
Coordinator: Licínio Manco (CIAS)
Participants: Manuela Alvarez (CIAS), Augusto Abade, Licínio Manco (CIAS)
Financial support: CIAS
Duration: 2010-2013
Abstract: To investigate in several regions of Portugal the male genetic legacy of historical events, and in particular the maritime expansions of Phoenicians.
Coordinator: Licínio Manco (CIAS)
Participants: Rui Martiniano, Augusto Abade, Licínio Manco (CIAS)
Financial support: CIAS
