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- Strakova, A., et al.
(författare)
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Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Autonomous replication and segregation of mitochondrial DNA (mtDNA) creates the potential for evolutionary conflict driven by emergence of haplotypes under positive selection for 'selfish' traits, such as replicative advantage. However, few cases of this phenomenon arising within natural populations have been described. Here, we survey the frequency of mtDNA horizontal transfer within the canine transmissible venereal tumour (CTVT), a contagious cancer clone that occasionally acquires mtDNA from its hosts. Remarkably, one canine mtDNA haplotype, A1d1a, has repeatedly and recently colonised CTVT cells, recurrently replacing incumbent CTVT haplotypes. An A1d1a control region polymorphism predicted to influence transcription is fixed in the products of an A1d1a recombination event and occurs somatically on other CTVT mtDNA backgrounds. We present a model whereby 'selfish' positive selection acting on a regulatory variant drives repeated fixation of A1d1a within CTVT cells.
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- Durães, C., et al.
(författare)
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Genetic variants in the IL1A gene region contribute to intestinal-type gastric carcinoma susceptibility in European populations
- 2014
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Ingår i: International Journal of Cancer. - : Wiley-Liss Inc.. - 0020-7136 .- 1097-0215. ; 135:6, s. 1343-1355
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Tidskriftsartikel (refereegranskat)abstract
- The most studied genetic susceptibility factors involved in gastric carcinoma (GC) risk are polymorphisms in the inflammation-linked genes interleukin 1 (IL1) B and IL1RN. Despite the evidence pointing to the IL1 region, definite functional variants reproducible across populations of different genetic background have not been discovered so far. A high density linkage disequilibrium (LD) map of the IL1 gene cluster was established using HapMap to identify haplotype tagSNPs. Eighty-seven SNPs were genotyped in a Portuguese case-control study (358 cases, 1,485 controls) for the discovery analysis. A replication study, including a subset of those tagSNPs (43), was performed in an independent analysis (EPIC-EurGast) containing individuals from 10 European countries (365 cases, 1284 controls). Single SNP and haplotype block associations were determined for GC overall and anatomopathological subtypes. The most robust association was observed for SNP rs17042407, 16Kb upstream of the IL1A gene. Although several other SNP associations were observed, only the inverse association of rs17042407 allele C with GC of the intestinal type was observed in both studies, retaining significance after multiple testing correction (p=0.0042) in the combined analysis. The haplotype analysis of the IL1A LD block in the combined dataset revealed the association between a common haplotype carrying the rs17042407 variant and GC, particularly of the intestinal type (p=3.1 × 10-5) and non cardia localisation (p=4.6 × 10-3). These results confirm the association of IL1 gene variants with GC and reveal a novel SNP and haplotypes in the IL1A region associated with intestinal type GC in European populations. What's new? Genetic susceptibility to gastric cancer lurks in the region of the interleukin 1 gene cluster, but no one yet knows just how genetic variation contributes to risk. These authors searched for other variants within this genetic neighborhood by assessing linkage disequilibrium. There they found several small nucleotide polymorphisms (SNPs), mainly in the IL1A gene region, that associated with gastric carcinoma, particularly the intestinal subtype. By identifying these SNPs, they hope to shed more light on how the disease develops or help identify people who are at risk. © 2014 UICC.
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- Rota, M, et al.
(författare)
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Erratum
- 2018
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Ingår i: International journal of cancer. - : Wiley. - 1097-0215 .- 0020-7136. ; 143:8, s. E10-E10
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Tidskriftsartikel (refereegranskat)
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| 8. |
- Shaaban, AN, et al.
(författare)
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Factors associated with self-perceived health status in Portugal: Results from the National Health Survey 2014
- 2022
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Ingår i: Frontiers in public health. - : Frontiers Media SA. - 2296-2565. ; 10, s. 879432-
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Tidskriftsartikel (refereegranskat)abstract
- Self-perceived health is an important indicator of illness and mortality. This study aims at identifying a wide range of factors that can influence self-perceived health status among a representative sample in Portugal.MethodsWe used the 2014 National Health Survey (n = 17,057), whereby participants were required to assess their health status from “Very good,” “Good,” “Fair,” “Poor” to “Very poor.” We grouped the answers “Very good” and “Good,” and “Poor” and “Very poor,” respectively. Multinomial logistic regression was used to compare participants' characteristics across groups by computing odds ratio and corresponding 95% confidence intervals. Models included Socioeconomic/demographic characteristics, objective health status, healthcare use, functional disability, barriers to healthcare services utilization, lifestyle variables, mental health status, social support, and satisfaction with life as potential factors that can affect self-perceived health. Models were adjusted for sex, age, educational level, degree of urbanization, and presence of chronic diseases.ResultsAbout 45% of participants reported good/very good, 39% reported fair, while ~16% reported poor/very poor health perception. Poor/very poor health was more reported by women when compared to men (19.1 vs. 11.4%, respectively, p < 0.001). A higher prevalence of poor/very poor health status was reported by participants living in thinly populated areas or among older populations. Lower educational levels, lower income, as well as unemployment, were found to increase the risk of reporting poor/very poor health status. Utilizing healthcare services more frequently, experiencing barriers to access healthcare services, having depressive symptoms or activity limitations, or lacking social support were found to be significantly associated with poor/very poor self-perceived health.ConclusionSubjects living in Portugal tend to report less good/very good health status and more poor/very poor health when compared to the rest of Europe. This study stresses the importance of socioeconomic factors, chronic illness, barriers to access healthcare services, social isolation, and mental health status in influencing self-perceived health and highlights the urgent need for social-informed policies, strategies, and interventions to reduce health inequalities in Portugal.
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