Greenlandic Inuit show genetic signatures of diet and climate adaptation

The indigenous people of Greenland, the Inuit, have lived for a long time in the extreme conditions of the Arctic, including low annual temperatures, and with a specialized diet rich in protein and fatty acids, particularly omega-3 polyunsaturated fatty acids (PUFAs). A scan of Inuit genomes for signatures of adaptation revealed signals at several loci, with the strongest signal located in a cluster of fatty acid desaturases that determine PUFA levels. The selected alleles are associated with multiple metabolic and anthropometric phenotypes and have large effect sizes for weight and height, with the effect on height replicated in Europeans. By analyzing membrane lipids, we found that the selected alleles modulate fatty acid composition, which may affect the regulation of growth hormones. Thus, the Inuit have genetic and physiological adaptations to a diet rich in PUFAs.

The onset of lactase persistence in Europe

The genomic region containing the lactase (LCT) gene shows one of the strongest signals of positive selection in Europeans, detectable using a range of approaches including haplotype length, linked microsatellite variation and population-differentiation-based tests. Lactase is the enzyme that carries out the digestion of the milk sugar lactose. Its expression decreases at some point after the weaning period is over in most mammals and in around 68% of all living adult humans. However, in some humans, particularly those from populations with a history of dairying, lactase is expressed throughout adulthood. This trait is called lactase persistence (LP), and in people of European ancestry, it is associated with a single mutation (-13910*T). Evidence from the detection of dairy fat residues in potsherds, and allele frequencies in ancient DNA samples suggest that LP arose after dairying practices had developed. However, the reasons why LP may have been advantageous are still debated, and the respective contribution of demography and natural selection remains to be disentangled. This paper discusses various studies, from archaeology to population genetics, that have shed some light on the subject by investigating the evolution of LP in Europe.

The European Union Foreign Policy in the Caucasus and Central Asia: The Limitations of the Opening towards the East

This article intends to study the evolution of the European Union foreign policy in the Southern Caucasus and Central Area throughout the Post-Cold War era. The aim is to analyze Brussels’ fundamental interests and limitations in the area, the strategies it has implemented in the last few years, and the extent to which the EU has been able to undermine the regional hegemons’ traditional supremacy. As will be highlighted, the Community’s chronic weaknesses, the local determination to preserve sovereignty and an increasing international geopolitical competition undermine any European aspiration to become a pre-eminent actor at the heart of the Eurasian continent in the near future.

"Lancea", Lusitanian Word, and the "Lancienses" Ethnogenesis

Analysis of the word lancea, of Hispanic origin after Varro, and of place names, people´s names and personal names derived from it. It confirms that the spear was the most important weapon in the Bronze Age, belonging to the iuventus and used as heroic and divine symbol. This analysis confirms also the personality of the Lusitanians, a people related to the Celts but with more archaic archaeological, linguistic and cultural characteristics originated in the tradition of the Atlantic Bronze in the II millennium BC. It is also relevant to better know the organisation of Broze and Iron Age societies and the origin of Indo-Europeans peoples in Western Europe and of pre-Roman peoples of Iberia.

Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis

Background: Esophageal adenocarcinoma (EA) is one of the fastest rising cancers in western countries. Barrett’s Esophagus (BE) is the premalignant precursor of EA. However, only a subset of BE patients develop EA, which complicates the clinical management in the absence of valid predictors. Genetic risk factors for BE and EA are incompletely understood. This study aimed to identify novel genetic risk factors for BE and EA.Methods: Within an international consortium of groups involved in the genetics of BE/EA, we performed the first meta-analysis of all genome-wide association studies (GWAS) available, involving 6,167 BE patients, 4,112 EA patients, and 17,159 representative controls, all of European ancestry, genotyped on Illumina high-density SNP-arrays, collected from four separate studies within North America, Europe, and Australia. Meta-analysis was conducted using the fixed-effects inverse variance-weighting approach. We used the standard genome-wide significant threshold of 5×10-8 for this study. We also conducted an association analysis following reweighting of loci using an approach that investigates annotation enrichment among the genome-wide significant loci. The entire GWAS-data set was also analyzed using bioinformatics approaches including functional annotation databases as well as gene-based and pathway-based methods in order to identify pathophysiologically relevant cellular pathways.Findings: We identified eight new associated risk loci for BE and EA, within or near the CFTR (rs17451754, P=4·8×10-10), MSRA (rs17749155, P=5·2×10-10), BLK (rs10108511, P=2·1×10-9), KHDRBS2 (rs62423175, P=3·0×10-9), TPPP/CEP72 (rs9918259, P=3·2×10-9), TMOD1 (rs7852462, P=1·5×10-8), SATB2 (rs139606545, P=2·0×10-8), and HTR3C/ABCC5 genes (rs9823696, P=1·6×10-8). A further novel risk locus at LPA (rs12207195, posteriori probability=0·925) was identified after re-weighting using significantly enriched annotations. This study thereby doubled the number of known risk loci. The strongest disease pathways identified (P<10-6) belong to muscle cell differentiation and to mesenchyme development/differentiation, which fit with current pathophysiological BE/EA concepts. To our knowledge, this study identified for the first time an EA-specific association (rs9823696, P=1·6×10-8) near HTR3C/ABCC5 which is independent of BE development (P=0·45).Interpretation: The identified disease loci and pathways reveal new insights into the etiology of BE and EA. Furthermore, the EA-specific association at HTR3C/ABCC5 may constitute a novel genetic marker for the prediction of transition from BE to EA. Mutations in CFTR, one of the new risk loci identified in this study, cause cystic fibrosis (CF), the most common recessive disorder in Europeans. Gastroesophageal reflux (GER) belongs to the phenotypic CF-spectrum and represents the main risk factor for BE/EA. Thus, the CFTR locus may trigger a common GER-mediated pathophysiology.

Novel Genetic Determinants of Diabetic Kidney Disease

Diabetic kidney disease (DKD) is a devastating diabetes complication, with known heritability not fully revealed by previous genetics studies. We performed the largest genome-wide association study of type 1 DKD to date, in a 13-cohort consortium of 15,590 individuals of European ancestry genotyped on the Illumina HumanCoreExome Beadchip, which allows exploration of coding variation in addition to genomic markers.

As prior work has shown that different characterizations of the DKD phenotype highlight distinct genetic associations, we investigated a spectrum of DKD definitions based on proteinuria and renal function criteria. Controls were DKD-free after a minimum of 15 years diabetes duration; cases had diabetes for at least 10 years prior to DKD diagnosis. We also performed a quantitative trait analysis of estimated glomerular filtration rate in all participants.

Our top finding was a missense mutation in COL4A3, rs55703767 (Asp326Tyr); the minor allele is common in Europeans (20%) and East Asians (13%) but not Africans (2%). This SNP had a genome-wide significant association with traditionally defined DKD (macroalbuminuria or end-stage renal disease [ESRD], (OR= 0.79, P=1.9×10-9), and a suggestive association with macroalbuminuria (OR= 0.79, P=1.6×10-6) and ESRD (OR= 0.79, P=4.5×10-5) individually. Though its PolyPhen score is 0.3 (benign), this SNP has been implicated as a splice site disruptor.

The COL4A3 gene encodes the alpha 3 subunit of Type IV collagen, the major structural component of basement membranes. Pathogenic mutations in COL4A3 have been identified in thin basement membrane nephropathy, familial focal segmental glomerulosclerosis, and Alport syndrome. A proxy (r2=0.6) for rs55703767 had no significant associations in the CKDGen consortium, suggesting its pathogenicity occurs solely in the setting of hyperglycemia.

By significantly increasing sample size we have discovered a novel locus underlying DKD risk, paving the way for better understanding of pathology, prevention, and treatment.

On the Economics and Politics of Mobility

Exit, Voice and Political Change: Evidence from Swedish Mass Migration to the United States. During the Age of Mass Migration, 30 million Europeans immigrated to the United States. We study the long-term political effects of this large-scale migration episode on origin communities using detailed historical data from Sweden. To instrument for emigration, we exploit severe local frost shocks that sparked an initial wave of emigration, interacted with within-country travel costs. Because Swedish emigration was highly path dependent, the initial shocks strongly predict total emigration over 50 years. Our estimates show that emigration substantially increased membership in local labor organizations, the strongest political opposition groups at the time. Furthermore, emigration caused greater strike participation, and mobilized voter turnout and support for left-wing parties in national elections. Emigration also had formal political effects, as measured by welfare expenditures and adoption of inclusive political institutions. Together, our findings indicate that large-scale emigration can achieve long-lasting effects on the political equilibrium in origin communities. Mass Migration and Technological Innovation at the Origin. This essay studies the effects of migration on technological innovations in origin communities. Using historical data from Sweden, we find that large-scale emigration caused a long-run increase in patent innovations in origin municipalities. Our IV estimate shows that a ten percent increase in emigration entails a 7 percent increase in a muncipality’s number of patents. Weighting patents by a measure of their economic value, the positive effects are further increased. Discussing possible mechanisms, we suggest that low skilled labor scarcity may be an explanation for these results.  Richer (and Holier) Than Thou? The Impact of Relative Income Improvements on Demand for Redistribution. We use a tailor-made survey on a Swedish sample to investigate how individuals' relative income affects their demand for redistribution. We first document that a majority misperceive their position in the income distribution and believe that they are poorer, relative to others, than they actually are. We then inform a subsample about their true relative income, and find that individuals who are richer than they initially thought demand less redistribution. This result is driven by individuals with prior right-of-center political preferences who view taxes as distortive and believe that effort, rather than luck, drives individual economic success. Wealth, home ownership and mobility. Rent controls on housing have long been thought to reduce labor mobility and allocative efficiency. We study a policy that allowed renters to purchase their rent-controlled apartments at below market prices, and examine the effects of home ownership and wealth on mobility. Treated individuals have a substantially higher likelihood of moving to a new home in a given year. The effect corresponds to a 30 percent increase from the control group mean. The size of the wealth shock predicts lower mobility, while the positive average effect can be explained by tenants switching from the previous rent-controlled system to market-priced condominiums. By contrast, we do not find that the increase in residential mobility leads to a greater probability of moving to a new place of work.

Dream characteristics in a Brazilian sample: an online survey focusing on lucid dreaming

During sleep, humans experience the offline images and sensations that we call dreams, which are typically emotional and lacking in rational judgment of their bizarreness. However, during lucid dreaming (LD), subjects know that they are dreaming, and may control oneiric content. Dreaming and LD features have been studied in North Americans, Europeans and Asians, but not among Brazilians, the largest population in Latin America. Here we investigated dreams and LD characteristics in a Brazilian sample (n=3,427; median age=25 years) through an online survey. The subjects reported recalling dreams at least once a week (76%), and that dreams typically depicted actions (93%), known people (92%), sounds/voices (78%), and colored images (76%). The oneiric content was associated with plans for the upcoming days (37%), memories of the previous day (13%), or unrelated to the dreamer (30%). Nightmares usually depicted anxiety/fear (65%), being stalked (48%), or other unpleasant sensations(47%). These data corroborate Freudian notion of day residue in dreams, and suggest that dreams and nightmares are simulations of life situations that are related to our psychobiological integrity. Regarding LD, we observed that 77% of the subjects experienced LD at least once in life (44% up to 10 episodes ever), and for 48% LD subjectively lasted less than 1 min. LD frequency correlated weakly with dream recall frequency (r =0.20,p< 0.01), and LD control was rare (29%). LD occurrence was facilitated when subjects did not need to wake up early (38%), a situation that increases rapid eye movement sleep (REMS) duration, or when subjects were under stress (30%), which increases REMS transitions into waking. These results indicate that LD is relatively ubiquitous but rare, unstable, difficult to control, and facilitated by increases in REMS duration and transitions to wake state. Together with LD incidence in USA, Europe and Asia, our data from Latin America strengthen the notion that LD is a general phenomenon of the human species.

Those Who Belong and Those Who Don’t: Physical and Mental Borders in Europe

Europe promotes migration and mobility but new or ‘different’ Europeans are still stigmatised and marginalised in our societies. Today, neither refugee status nor citizenship can tear down the mental borders between people who inhabit the same cities or neighbourhoods. Sociology professor Nira Yuval-Davis writes about the meaning of borders, and how they make us differentiate between ‘us’ and ‘the other’ in our daily lives.

Depois dos 35 anos, quais as intenções reprodutivas dos sul europeus?

Sendo a baixa fecundidade comum aos países do sul da Europa e considerando que nas últimas décadas tanto homens como mulheres têm vindo a adiar o nascimento do primeiro e, consequentemente, do segundo filho, interessa estudar os determinantes das intenções de fecundidade, em particular, dos sul europeus com mais de 35 anos, idade a partir da qual se considera que aqueles que não têm filhos ou que têm apenas um adiaram os seus projetos de fecundidade. Recorrendo à base de dados do Eurobarómetro (2011) e a modelos de regressão logística, analisámos os fatores que determinam a intenção de permanecer sem filhos ou com apenas um filho e se questões relacionadas com valores, percepções e expectativas ganham uma maior relevância face às características sociodemográficas. Deste modo, damos especial enfoque ao efeito que os valores e atitudes podem ter no contexto da fecundidade. Os resultados mostram que as percepções dos indivíduos em relação à sua vida e ao estado do país são determinantes para explicar a intenção de permanecer sem filhos ou com apenas um filho. Para os sul europeus, percepções e expectativas negativas em relação ao estado do país são inibidoras no processo da tomada de decisão de ter (mais) filhos, especialmente quando a decisão em causa é transitar para o segundo filho. Este trabalho reporta para a importância de considerar valores e expectativas dos indivíduos em relação à sua vida no geral a ao estado do país como preditores do comportamento reprodutivo. Because low fertility is common in southern European countries and considering that in recent decades both men and women have been postponing the birth of the first and therefore the second child, it is of our interest to study the determinants of reproductive decision-making, particularly of southern Europeans older than 35, age from which it is considered that those who don’t have children or have only one have postponed their fertility intentions. Using the Eurobarometer data (2011) and logistic regression models, we analyse the factors that determine the intention of remaining childless and with only one child. Also, we study if variables related to values, perceptions and expectations gain greater relevance than a set of background variables. Thus, we give a special attention to the effect that values and attitudes can have in the context of reproductive decision-making. The findings show that respondent’s perceptions about their lives and the environment of their country are crucial to explain the intention of remaining childless or with only one child. For southern Europeans, negative perceptions and expectations about the situation of the country inhibit the process of decision-making to have a/another child, especially when the decision at issue is transitioning to the second child. This paper reports to the importance of considering values, perceptions and expectations of individuals regarding their lives and the environment of their country as predictors of fertility behaviour.

Dream characteristics in a Brazilian sample: an online survey focusing on lucid dreaming

During sleep, humans experience the offline images and sensations that we call dreams, which are typically emotional and lacking in rational judgment of their bizarreness. However, during lucid dreaming (LD), subjects know that they are dreaming, and may control oneiric content. Dreaming and LD features have been studied in North Americans, Europeans and Asians, but not among Brazilians, the largest population in Latin America. Here we investigated dreams and LD characteristics in a Brazilian sample (n=3,427; median age=25 years) through an online survey. The subjects reported recalling dreams at least once a week (76%), and that dreams typically depicted actions (93%), known people (92%), sounds/voices (78%), and colored images (76%). The oneiric content was associated with plans for the upcoming days (37%), memories of the previous day (13%), or unrelated to the dreamer (30%). Nightmares usually depicted anxiety/fear (65%), being stalked (48%), or other unpleasant sensations(47%). These data corroborate Freudian notion of day residue in dreams, and suggest that dreams and nightmares are simulations of life situations that are related to our psychobiological integrity. Regarding LD, we observed that 77% of the subjects experienced LD at least once in life (44% up to 10 episodes ever), and for 48% LD subjectively lasted less than 1 min. LD frequency correlated weakly with dream recall frequency (r =0.20,p< 0.01), and LD control was rare (29%). LD occurrence was facilitated when subjects did not need to wake up early (38%), a situation that increases rapid eye movement sleep (REMS) duration, or when subjects were under stress (30%), which increases REMS transitions into waking. These results indicate that LD is relatively ubiquitous but rare, unstable, difficult to control, and facilitated by increases in REMS duration and transitions to wake state. Together with LD incidence in USA, Europe and Asia, our data from Latin America strengthen the notion that LD is a general phenomenon of the human species.

Lifestyle factors, adiposity and cardiometabolic risk factors in South Asian women living in Scotland

South Asians migrating to the Western world have a 3 to 5-fold higher risk of developing type 2 diabetes and double the risk of cardiovascular disease (CVD) than the background population of White European descent, without exhibiting a proportional higher prevalence of conventional cardiometabolic risk factors. Notably, women of South Asian descent are more likely to be diagnosed with type 2 diabetes as they grow older compared with South Asian men and, in addition, they have lost the cardio-protective effects of being females. Despite South Asian women in Western countries being a high risk group for developing future type 2 diabetes and CVD, they have been largely overlooked. The aims of this thesis were to compare lifestyle factors, body composition and cardiometabolic risk factors in healthy South Asian and European women who reside in Scotland, to examine whether ethnicity modifies the associations between modifiable environmental factors and cardiometabolic risks and to assess whether vascular reactivity is altered by ethnicity or other conventional and novel CVD risks. I conducted a cross-sectional study and recruited 92 women of South Asian and 87 women of White European descent without diagnosed diabetes or CVD. Women on hormone replacement therapy or hormonal contraceptives were excluded too. Age and body mass index (BMI) did not differ between the two ethnic groups. Physical activity was assessed and with self-reported questionnaires and objectively with the use of accelerometers. Cardiorespiratory fitness was quantified with the predicted maximal oxygen uptake (VO2 max) during a submaximal test (Chester step test). Body composition was assessed with skinfolds measured at seven body sites, five body circumferences, measurement of abdominal subcutaneous (SAT) and visceral adipose tissue (VAT) with the use of magnetic resonance imaging (MRI) and liver fat with the use MR spectroscopy. Dietary density was assessed with food frequency questionnaires. Vascular response was assessed by measuring the response to acetylcholine and sodium nitroprusside with the use of Laser Doppler Imaging with Iontophoresis (LDI-ION) and the response to shear stress with the use of Peripheral Arterial Tonometry (EndoPAT). The South Asian women exhibited a metabolic profile consistent with the insulin resistant phenotype, characterised by greater levels of fasting insulin, lower levels of high density lipoprotein (HDL) and higher levels of triglycerides (TG) compared with their European counterparts. In addition, the South Asians had greater levels of glycated haemoglobin (HbA1c) for any given level of fasting glucose. The South Asian women engaged less time weekly with moderate to vigorous physical activity (MVPA) and had lower levels of cardiorespiratory fitness for any given level of physical activity than the women of White descent. In addition, they accumulated more fat centrally for any given BMI. Notably, the South Asians had equivalent SAT with the European women but greater VAT and hepatic fat for any given BMI. Dietary density did not differ among the groups. Increasing central adiposity had the largest effect on insulin resistance in both ethic groups compared with physical inactivity or decreased cardiorespiratory fitness. Interestingly, ethnicity modified the association between central adiposity and insulin resistance index with a similar increase in central adiposity having a substantially larger effect on insulin resistance index in the South Asian women than in the Europeans. I subsequently examined whether ethnic specific thresholds are required for lifestyle modifications and demonstrated that South Asian women need to engage with MVPA for around 195 min.week-1 in order to equate their cardiometabolic risk with that of the Europeans exercising 150 min.week-1. In addition, lower thresholds of abdominal adiposity and BMI should apply for the South Asians compared with the conventional thresholds. Although the South Asians displayed an adverse metabolic profile, vascular reactivity measured with both methods did not differ among the two groups. An additional finding was that menopausal women with hot flushing of both ethnic groups showed a paradoxical vascular profile with enhanced skin perfusion (measured with LDI-ION) but decreased reactive hyperaemia index (measured with EndoPAT) compared with asymptomatic menopausal women. The latter association was independent of conventional CVD risk factors. To conclude, South Asian women without overt disease who live in Scotland display an adverse metabolic profile with steeper associations between lifestyle risk factors and adverse cardiometabolic outcomes compared with their White counterparts. Further work in exploring ethnic specific thresholds in lifestyle interventions or in disease diagnosis is warranted.

Explaining tourists´ support for environmental protection

Any movement towards sustainable tourism is dependent not only upon the industry and other key stakeholders but also the demand side, namely the tourists. Yet, there is a limited literature from the demand point of view. In this area, contributions to an understanding of tourists’ support to sustainable development are necessary. This paper analyzes the main determinants in tourist behavior regarding the environmental considerations when they are making decisions about their holiday plans. General literature on this issue highlights the need to consider socio-economic variables of the individual as well as the attributes related of their style of living. If the econometric model takes into account all these variables simultaneously, then the linkage between contextual changes and tourists´ behaviour is enriched and it may be estimated more accurately. In this sense, a multilevel approach using a random-intercept logistic models is proposed, since tourists belong to a country are affected by the same contextual variables. The analysis comprises a joint dataset composed by microdata belong to the survey Attitudes of Europeans Towards Tourism, which corresponds to Flash Eurobarometer 281, macrodata from Eurostat (GDP in pps and GDP growth) and additional variables profiles from the 2005 Environmental Sustainability Index. Country-specific effects are calculated across the EU-27 countries, which corroborated that attitudes to the sustainable tourism are heterogeneous geo-graphically. The higher the level of GDP, the lower the level of tourists´ support. These results could be explained because tourists of richer countries already have to pay more tax for envi-ronmental protection. Age, gender and educational attainment are relevant. Motivations for travelling, size of the community, type of the destination, and environmental sustainability indi-cators of the place of residence are also important factors.

Pérennité du dilettantisme néo-vaguien. Rémanence et filiations des masculinités oisives dans le cinéma français

Volet cinématographique d’une révolution d’ordre social, la Nouvelle Vague a cristallisé les changements qui ont bouleversé la société européenne au début des années soixante. De l’émancipation sexuelle à la mise en scène d’une jeunesse affranchie, elle sut se faire le miroir cinématographique d’une libération des mœurs qui fit entrer les Européens dans une ère nouvelle. Si une nouvelle conception du cinéma suffit à accorder une place de choix au mouvement dans son histoire, ses représentants ont également forgé une nouvelle figure du héros masculin dans le paysage cinématographique français. Loin des héros lisses de l'académisme ou de la gravité de ceux du réalisme poétique qui l'ont par exemple précédé, l'héroïsme conjugué par la Nouvelle Vague insufflait légèreté, oisiveté et désinvolture à des protagonistes dont le dilettantisme des acteurs Jean-Pierre Léaud et Jean-Paul Belmondo (par exemple) en constitua le parangon. Le travail de recherche dont il est ici question visera principalement à s’interroger sur la façon dont ce héros atypique semble s’être annexé aux voix du cinéma français contemporain qui en présentent une mosaïque de réinterprétations. Mouvement dont le rayonnement ne semble toujours pas s’être tari – son héritage est encore revendiqué par plusieurs cinéastes – et qui dépasse la sphère du cinéma, nous viserons surtout à rendre compte de la pérennité de la Nouvelle Vague à travers l'examen de la perpétuation de son héritage par de nouvelles générations d'auteurs. Ce projet de mémoire s'essaiera notamment à la définition d'une identité du héros cinématographique français contemporain qui ne nous semble a priori pas si éloignée de celle colportée dans les années soixante par les porte-étendards de la Nouvelle Vague.

La construction des attitudes envers les Roms : le cas français

Représentant entre 10 et 12 millions d’individus en Europe, les Roms sont confrontés à des discriminations et à l’exclusion sociale. 40% des Européens refusent d’avoir des Roms comme voisins, alors que 70% de ceux-ci n’entretiennent même pas de contact direct avec eux dans leur vie. Face à la problématique qu’offrent ces statistiques, cette étude entend observer les mécanismes de construction des attitudes envers les Roms. Je propose d’analyser la production de ces attitudes au sein de deux milieux similaires, mais où les politiques d’intégration locales envers les Roms divergent, rendant ainsi les conditions des contacts intergroupes différent. Cette analyse part des postulats scientifiques selon lesquels l’intégration des migrants est un enjeu d’action publique locale, et que les interactions sociales de qualité structurent les attitudes des uns par rapport aux autres. Ainsi, à partir d’entrevues semi-dirigées réalisées dans les communes françaises de La Courneuve et d’Ivry-sur-Seine, je teste de manière empirique quatre théories dominantes dans le domaine des relations intergroupes: la théorie du contact, l’effet halo, l’impact des politiques locales d’intégration des immigrants et l’influence des médias.