Firdessa R.,Armauer Hansen Research Institute |
Firdessa R.,University of Wurzburg |
Berg S.,Animal Health and Veterinary Laboratories Agency |
Hailu E.,Armauer Hansen Research Institute |
And 30 more authors.
Emerging Infectious Diseases | Year: 2013
Molecular typing of 964 specimens from patients in Ethiopia with lymph node or pulmonary tuberculosis showed a similar distribution of Mycobacterium tuberculosis strains between the 2 disease manifestations and a minimal role for M. bovis. We report a novel phylogenetic lineage of M. tuberculosis strongly associated with the Horn of Africa. Source
Rodriguez-Santiago B.,University Pompeu Fabra |
Rodriguez-Santiago B.,Research Center Biomedica En Red Of Enfermedades Raras Ciberer |
Malats N.,CSIC - National Center for Metallurgical Research |
Rothman N.,U.S. National Cancer Institute |
And 26 more authors.
American Journal of Human Genetics | Year: 2010
Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established cause of developmental and somatic disorders and has also been detected in different tissues, its frequency and extent in the adult normal population are still unknown. We provide here a genome-wide survey of mosaic genomic variation obtained by analyzing Illumina 1M SNP array data from blood or buccal DNA samples of 1991 adult individuals from the Spanish Bladder Cancer/EPICURO genome-wide association study. We found mosaic abnormalities in autosomes in 1.7% of samples, including 23 segmental uniparental disomies, 8 complete trisomies, and 11 large (1.5-37 Mb) copy-number variants. Alterations were observed across the different autosomes with recurrent events in chromosomes 9 and 20. No case-control differences were found in the frequency of events or the percentage of cells affected, thus indicating that most rearrangements found are not central to the development of bladder cancer. However, five out of six events tested were detected in both blood and bladder tissue from the same individual, indicating an early developmental origin. The high cellular frequency of the anomalies detected and their presence in normal adult individuals suggest that this type of mosaicism is a widespread phenomenon in the human genome. Somatic mosaicism should be considered in the expanding repertoire of inter- and intraindividual genetic variation, some of which may cause somatic human diseases but also contribute to modifying inherited disorders and/or late-onset multifactorial traits. © 2010 The American Society of Human Genetics. All rights reserved. Source
Malmusi D.,Research Center Biomedica en Red en Epidemiologia y Salud Publica |
Malmusi D.,Health Information Systems Unit
European Journal of Public Health | Year: 2015
Background: Recent efforts to characterize integration policy towards immigrants and to compare immigrants' health across countries have rarely been combined so far. This study explores the relationship of country-level integration policy with immigrants' health status in Europe. Methods: Cross-sectional study with data from the 2011 European Union Survey on Income and Living Conditions. Fourteen countries were grouped according to a typology of integration policies based on the Migrant Integration Policy Index: 'multicultural' (highest scores: UK, Italy, Spain, Netherlands, Sweden, Belgium, Portugal, Norway, Finland), 'exclusionist' (lowest scores: Austria, Denmark) and 'assimilationist' (high or low depending on the dimension: France, Switzerland, Luxembourg). People born in the country (natives, n = 177 300) or outside the European Union with >10 years of residence (immigrants, n = 7088) were included. Prevalence ratios (PR) of fair/poor self-rated health between immigrants in each country cluster, and for immigrants versus natives within each, were computed adjusting by age, education, occupation and socio-economic conditions. Results: Compared with multicultural countries, immigrants report worse health in exclusionist countries (age-adjusted PR, 95% CI: men 1.78, 1.49-2.12; women 1.58, 1.37-1.82; fully adjusted, men 1.78, 1.50-2.11; women 1.47, 1.26-1.70) and assimilationist countries (age-adjusted, men 1.21, 1.03-1.41; women 1.21, 1.06-1.39; fully adjusted, men 1.19, 1.02-1.40; women 1.22, 1.07-1.40). Health inequalities between immigrants and natives were also highest in exclusionist countries, where they persisted even after adjusting for differences in socio-economic situation. Conclusion: Immigrants in 'exclusionist' countries experience poorer socio-economic and health outcomes. Future studies should confirm whether and how integration policy models could make a difference on migrants' health. © The Author 2014. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved. Source
Pardo M.,University of Santiago de Compostela |
Pardo M.,CIBER ISCIII |
Crujeiras A.B.,University of Santiago de Compostela |
Crujeiras A.B.,CIBER ISCIII |
And 33 more authors.
International Journal of Endocrinology | Year: 2014
FNDC5/irisin has been recently postulated as beneficial in the treatment of obesity and diabetes because it is induced in muscle by exercise, increasing energy expenditure. However, recent reports have shown that WAT also secretes irisin and that circulating irisin is elevated in obese subjects. The aim of this study was to evaluate irisin levels in conditions of extreme BMI and its correlation with basal metabolism and daily activity. The study involved 145 female patients, including 96 with extreme BMIs (30 anorexic (AN) and 66 obese (OB)) and 49 healthy normal weight (NW). The plasma irisin levels were significantly elevated in the OB patients compared with the AN and NW patients. Irisin also correlated positively with body weight, BMI, and fat mass. The OB patients exhibited the highest REE and higher daily physical activity compared with the AN patients but lower activity compared with the NW patients. The irisin levels were inversely correlated with daily physical activity and directly correlated with REE. Fat mass contributed to most of the variability of the irisin plasma levels independently of the other studied parameters. Conclusion. Irisin levels are influenced by energy expenditure independently of daily physical activity but fat mass is the main contributing factor. © 2014 María Pardo et al. Source
Docampo E.,Genomics and Disease Group |
Docampo E.,University Pompeu Fabra |
Docampo E.,Institute Hospital del Mar dInvestigacions Mediques IMIM |
Docampo E.,Research Center Biomedica en Red en Epidemiologia y Salud Publica |
And 37 more authors.
Pain | Year: 2014
Fibromyalgia (FM) is a highly disabling syndrome defined by a low pain threshold and a permanent state of pain. The mechanisms explaining this complex disorder remain unclear, and its genetic factors have not yet been identified. With the aim of elucidating FM genetic susceptibility factors, we selected 313 FM cases having low comorbidities, and we genotyped them on the Illumina 1 million duo array. Genotypic data from 220 control women (Illumina 610k array) was obtained for genome-wide association scan (GWAS) analysis. Copy number variants in FM susceptibility were analyzed by array comparative genomic hybridization (aCGH) experiments on pooled samples using the Agilent 2 × 400K platform. No single nucleotide polymorphism (SNP) reached GWAS association threshold, but 21 of the most associated SNPs were chosen for replication in 952 cases and 644 controls. Four of the SNPs selected for replication showed a nominal association in the joint analysis, and rs11127292 (MYT1L) was found to be associated to FM with low comorbidities (P = 4.28 × 10-5, odds ratio [95% confidence interval] = 0.58 [0.44-0.75]). aCGH detected 5 differentially hybridized regions. They were followed up, and an intronic deletion in NRXN3 was demonstrated to be associated to female cases of FM with low levels of comorbidities (P =.021, odds ratio [95% confidence interval] = 1.46 [1.05-2.04]). Both GWAS and aCGH results point to a role for the central nervous system in FM genetic susceptibility. If the proposed FM candidate genes were further validated in replication studies, this would highlight a neurocognitive involvement in agreement with latest reports. © 2014 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved. Source