Noise Disturbance and Well-Being in the North of Spain.

Environmental noise is considered one of the main risks for physical and mental health and well-being, with a significant associated burden of disease in Europe. This work aims to explore the main sources of noise exposure at home and its effect on well-being in northern Spain. A transversal opinion study has been performed through a closed questionnaire. The questionnaire included three different parts: sociodemographic data, noise disturbance, and the 5-item World Health Organization Well-Being Index (WHO-5). A Binary Logistics Regression model was performed to analyze the relationship between noise exposure and well-being. Overall, 16.6% of the participants consider that the noise isolation of their homes is bad or very bad. The noise generated by the neighbors (air and impact noise) is considered the most disturbing indoor noise source, while street works are the most disturbing outdoor noise source in urban areas and road traffic is the most disturbing in rural areas. People who indicate that noise interferes with their life at home have a worse score on the WHO-5 (decreased perception of well-being). The exposure to outdoor noise (specifically the noise coming from the street and trains), internal impact noise produced by neighbors, and in general, the noise that wakes you up, is related to receiving a worse score in the WHO-5 (p < 0.05). Administrative bodies must ensure that laws regulating at-home noise levels, which are continually being updated with stricter restrictions, are enforced.

Scrutinizing the Profile and Risk Factors of Suicide: A Perspective from a Case-Control Study Focused on a Northern Region of Spain.

Suicide is a major public health problem the prevention of which has become a priority, and, to this end, knowledge of its risk factors is essential. This study aims to evaluate the impact of some social, medico-legal, and clinical issues on suicide deaths. A total of 135 cases were identified as suicides that occurred in a region of northern Spain between 2018 and 2020. Controls (three for each case) were matched by age, sex, and urban-rural areas. The information was collected retrospectively through electronic health record systems. A binary logistic regression analysis was performed to study the association between individual risk factors and suicide. Being male (78.5%), between 40 and 60 years of age, unmarried (70.9%), and unemployed (85%) were associated with suicide deaths. Although the existence of a previous self-harm attempt is presented as the most robust risk factor (OR 22.121 [8.997-54.389]), the presence of a psychiatric diagnosis (OR 12.583 [7.686-20.601]) and cancer (OR 3.729 [1.845-7.536]) also showed a significant relationship with suicide (p < 0.05). Defining and knowing the risk factors for suicide helps to better understand the profiles of those individuals who are vulnerable, and enables prevention actions to be taken in both social and medical spheres.

Exposure to particulate matter: Direct and indirect role in the COVID-19 pandemic.

Knowing the transmission factors and the natural environment that favor the spread of a viral infection is crucial to stop outbreaks and develop effective preventive strategies. This work aims to evaluate the role of Particulate Matter (PM) in the COVID-19 pandemic, focusing especially on that of PM as a vector for SARS-CoV-2. Exposure to PM has been related to new cases and to the clinical severity of people infected by SARS-CoV-2, which can be explained by the oxidative stress and the inflammatory response generated by these particles when entering the respiratory system, as well as by the role of PM in the expression of ACE-2 in respiratory cells in human hosts. In addition, different authors have detected SARS-CoV-2 RNA in PM sampled both in outdoor and indoor environments. The results of various studies lead to the hypothesis that the aerosols emitted by an infected person could be deposited in other suspended particles, sometimes of natural but especially of anthropogenic origin, that form the basal PM. However, the viability of the virus in PM has not yet been demonstrated. Should PM be confirmed as a vector of transmission, prevention strategies ought to be adapted, and PM sampling in outdoor environments could become an indicator of viral load in a specific area.

Forensic databases, a perspective from the penitentiary centers of Spain.

Scientific and technological progress in the field of forensic genetics is very useful in the resolution of criminal cases, but it entails the need for a deep ethical reflection, as the individual Fundamental Rights may be violated. This project aims to collect and compare the opinion of prisoners and prison officials on what characteristics the country's forensic database should have. In this context, 210 subjects were surveyed, 101 of them prisoners and the rest prison officials, from three different Spanish penitentiary centers. Among the results obtained, most prisoners and officials consider the national DNA database to be useful, and additionally, a 40% of the participants would support the integration of the profiles of the entire population. 64% considered it ethical to use the DNA profiles of the database as a tool for familial searching. Despite this, half of the respondents are concerned about the future uses of the DNA database. Integrating the opinion of these analyzed groups with other relevant judicial, scientific and ethical convictions, ensures the regulation between security and individual's Human Rights.

Air pollution and occupational accidents in the Community of Madrid, Spain.

Spain is the EU member country with the third highest total number of accidents in work and has the third highest incidence rate. We have performed a descriptive analysis of occupational accidents in the Community of Madrid (Spain) between 2005 and 2013 to study the impact of air quality on the prevalence of occupational accidents, clarifying how vulnerable to air pollution outdoor workers are. In order to evaluate the association between each air pollutant and work accidents, a quasi-Poisson generalized additive model was fitted. The accident rate followed a downward and statistically significant trend (p = 0.001). The year with the highest accident rate was 2006, with 4981 occupational accidents per 100,000. Occupational accidents follow a temporary pattern (there are differences in the number of accidents according to the month of the year and to the day of the week). Exposure to PM10 and NO2 increases the risk of having an accident at work, especially for outdoor workers. An increase of 10 µg/m3 in daily concentration resulted in increases in accidents for outdoor workers of 2.5% for PM10 and 6.4% for NO2.

Forensic implications of the presence of chimerism after hematopoietic stem cell transplantation.

Biological vestiges are used in forensic science to resolve a large number of cases by typing the genetic profile and identifying the individual to whom it belongs. However, chimeric persons that possess cells with two or more different DNA make these types of analyses difficult. This situation can occur naturally, by errors in the fertilization or early embryogenesis, or in an artificial way, for example after hematopoietic stem cell transplantation (HSCT), when host and donor cells coexist in the patient. In this paper, we will specially focus on the latter. The vestiges from transplant patients represent a challenge from a forensic perspective since the interpretation of the genetic fingerprint can be misleading because of the presence of chimerism. Due to the high number of transplant patients (and their increase over the years) and the existence of natural chimeras (probably many of them hidden), it is necessary to consider whether we are facing a possible chimeric person or someone who has been a donor of hematopoietic stem cells in a forensic context. In this review, the presence of donor bone marrow derived cells in some tissues of forensic interest will be discussed. Finally, to emphasize the importance of chimerism after HSCT in forensic genetics, some real-life cases will be examined.

A time series analysis of the relationship between apparent temperature, air pollutants and ischemic stroke in Madrid, Spain.

The understanding of the role of environment on the pathogenesis of stroke is gaining importance in the context of climate change. This study analyzes the temporal pattern of ischemic stroke (IS) in Madrid, Spain, during a 13-year period (2001-2013), and the relationship between ischemic stroke (admissions and deaths) incidence and environmental factors on a daily scale by using a quasi-Poisson regression model. To assess potential delayed and non-linear effects of air pollutants and Apparent Temperature (AT), a biometeorological index which represents human thermal comfort on IS, a lag non-linear model was fitted in a generalized additive model. The mortality rate followed a downward trend over the studied period, however admission rates progressively increased. Our results show that both increases and decreases in AT had a marked relationship with IS deaths, while hospital admissions were only associated with low AT. When analyzing the cumulative effects (for lag 0-14 days), with an AT of 1.7 °C (percentile 5%) a RR of 1.20 (95% CI, 1.05-1.37) for IS mortality and a RR of 1.09 (95% CI, 0.91-1.29) for morbidity is estimated. Concerning gender differences, men show higher risks of mortality in low temperatures and women in high temperatures. No significant relationship was found between air pollutant concentrations and IS morbi-mortality, but this result must be interpreted with caution, since there are strong spatial fluctuations of the former between nearby geographical areas that make it difficult to perform correlation analyses.

El delito contra la libertad sexual en el anciano: una realidad escondida difícil de detectar / Sexual abuse of the elderly: A hidden, difficult to detect, reality

El maltrato a personas mayores es un problema de salud pública; existen diversos tipos de maltrato; el abuso sexual en el anciano es uno de los menos estudiados y comúnmente no se detecta. Este trabajo presenta el caso de una paciente que fue llevada al hospital por la sospecha de que pudiera haber sido víctima de un delito contra la libertad sexual. La paciente se encontraba ingresada en una residencia geriátrica y presentaba una demencia de 10 años de evolución. En el artículo se expone la vulnerabilidad de este tipo de pacientes y las dificultades encontradas para el diagnóstico, y se reflexiona sobre la necesidad de trabajar en la prevención e intervención efectiva desde el ámbito sanitario

Abuse of the elderly is an important public health problem. There are different types of abuse, with sexual abuse being one of the least studied, and usually underdiagnosed. A forensic case-study is presented on a female patient who was taken to the hospital under the suspicion that she had have been a victim of sexual assault. The patient was admitted to a geriatric centre and had been diagnosed with senile dementia type I of 10 years onset. In this article, an analysis is carried out on the vulnerability of this kind of patient, the difficulties in diagnosis, and on the need to work on prevention and effective intervention from a health care perspective

The genetic profile of bone marrow transplant patients in different samples of forensic interest.

Humans constantly lose epithelial cells, and these biological traces are frequently studied in the context of criminal investigations. The objective of this work was to examine the genetic profile in samples of forensic interest (nail and skin epithelial cells) of bone marrow transplant patients and discuss its forensic and clinical implications. The genetic profile of nail, epidermal cells and blood samples of patients receiving HSCT was analyzed by the amplification and sequencing of 38 insertion/deletion polymorphisms and 15 short tandem repeat polymorphisms. In this analysis, the age of patients and donors, the time elapsed from the transplant, the type of conditioning prior to the transplant and whether the patient suffered graft-versus-host disease were considered. Donor chimerism can be detected in the DNA extracted from nail and skin epithelial cells of transplant patients. No statistically significant correlation was found between the type of conditioning and the percentage of donor DNA in nail (p > 0.05). A positive correlation, without statistical significance, was encountered when we analyzed the relationship between the time elapsed from the transplant with the percent donor chimerism found in epithelial cells of the epidermis and in nails. We conclude that within a judicial context (e.g. when testifying as an expert witness) it is necessary to consider whether we are facing a possible transplant patient or a person who has been a bone marrow donor.

Riesgos y conflictos ante la clasificación de las personas transexuales como pacientes de salud mental / Risks and conflicts regarding the classificacion of transexual individuals as mental health patients

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¿Afecta el medio a los suicidios que se cometen en España? Análisis descriptivo del patrón temporoespacial / Does the environment affect suicide rates in Spain? A spatiotemporal analysis

Introducción: El suicidio es un problema de salud pública, ya que representa una de las principales causas de muerte no natural. Hay múltiples factores que influyen en el riesgo de la conducta suicida. Este trabajo analiza la distribución geográfica del suicidio en España, el patrón temporal y la relación entre la tasa de suicidios y el producto interior bruto (PIB) per cápita en el país. Material y métodos: Se ha realizado un estudio retrospectivo en el que se han analizado las muertes por suicidio, por sexo y por grupos de edad, en las 50 provincias españolas entre 2000 y 2012. La tendencia anual de los suicidios se calculó mediante el coeficiente de correlación Tau b de Kendall, y se empleó el análisis de varianza (ANOVA) y el test de Bonferroni para evaluar las diferencias en la mortalidad a escala estacional, mensual y semanal. Finalmente, se evaluó la asociación entre el PIB per cápita y las muertes autoinflingidas en las provincias. Resultados: Entre 2000 y 2012 fallecieron 42.905individuos de 15años de edad en adelante por suicidio en España. La tasa media anual de incidencia durante el periodo de estudio fue de 95suicidios/millón de habitantes. El sur y el noroeste de España acumularon las mayores tasas de mortalidad por esta causa. A escala global, en el país existió una tendencia descendente en las muertes por suicidio en personas de más de 64años (CC=-0,744; p=0,0004), y los suicidios siguieron un patrón estacional con máximos en verano y mínimos en otoño (f=0,504; p<0,0001); asimismo, se encontró una relación inversa entre el PIB per cápita y la tasa de suicidios de cada provincia (r=-0,645; p<0,0001), que se intensificó en los grupos poblacionales de mayor edad. Conclusiones: Los suicidios no siguen una distribución geográfica homogénea en el país y la tasa de suicidios en varones es muy superior a la tasa en mujeres. Existió un descenso en la tasa de suicidios en las personas de más de 64años, por lo que parece que las medidas de actuación tomadas en España estuvieran siendo efectivas. El patrón espacio-temporal encontrado, así como la relación con el PIB, sirven de base para en futuros estudios poder profundizar en los factores de riesgo asociados

Introduction: Suicide is an important public health problem, it represents one of the major causes of unnatural death, and there are many factors that affect the risk of suicidal behaviour. The present study analyzes the temporal and spatial variations of mortality by suicide in Spain and its relationship with gross domestic product (GDP) per capita. Material and methods: A retrospective study was performed, in which deaths by suicide, sex and age group in 50 Spanish provinces between 2000 and 2012 were analyzed. The annual trend of suicide mortality was assessed using Kendall's tau-b correlation coefficient. Seasonality and monthly and weekly behaviour were evaluated by performing the ANOVA test and the Bonferroni adjustment. Finally, the relationship between GDP per capita and suicide was studied. Results: Between 2000 and 2012, 42,905adult people died by suicide in Spain. The annual average incidence rate was 95 suicides per million population. The regions located in the south and in the northwest of the country registered the highest per capita mortality rates. There is a decreasing trend in mortality by suicide over the period studied (CC=-.744; P=.0004) in adults over the age of 64, and a seasonal behaviour was identified with summer maximum and autumn minimum values (f=.504; P<.0001). The regions with the highest GDP per capita showed the lowest mortality by suicide (r=-.645; P<.0001) and the relationship is stronger among older age groups. Conclusions: Mortality by suicide does not follow a homogenous geographical distribution in Spain. Mortality in men was higher than in women. Over the period of study, there has been a decrease in mortality by suicide in Spain in adults over the age of 64. The seasonal cycle of suicides and the inverse relationship with GDP per capita found in this study, provide information which may be used as a tool for developing prevention and intervention strategies

Who is legally responsible for deaths caused by air pollution?

A person's death is deemed unnatural when it is the result of an external force. This definition, however, does not apply when the cause of death is a respiratory or cardiovascular process triggered by a high concentration of an air pollutant, even if other deaths from toxicological causes (poisonings, overdoses, etc.) are. The distinction between natural and unnatural cause of death, although not internationally standardized, is critical in determining wrongfulness and liability, which in turn can have financial and/or legal repercussions. Even though the World Health Organization and other medical and scientific organizations have shown that air pollution contributes to several million deaths every year, there are currently no practical means to determine whether a person was subjected to high concentrations of atmospheric pollution before their death; indeed, the ability to find evidence of this type of exposition could prove very interesting from a forensic standpoint.

Association Between Suicide and Environmental Variables in the North of Spain: A 14-Year Analysis.

Suicide is a serious public health problem around the world. Since the nineteenth century, the impact of socio-environmental factors on suicide has attracted much public attention, especially in the context of global climate change. We have performed a retrospective correlation study that analyzes the demographic pattern of suicide in Cantabria, a northern coastland region of Spain. Moreover, we have created a multivariable binomial regression model to study the relationship between suicide and environmental factors (atmospheric pollutants and meteorological variables) among January 1, 2000, and December 31, 2013 in the province. During the 14-year study period, there was a suicide annual incidence of 4.9 cases per 100,000 population in Cantabria. The incidence was highest in adults aged 70-74 years old (11.8 per 100,000 population). The most common method group of suicide was hanging, strangulation and suffocation, accounting for 49.3% of all suicide deaths. When correlating suicide and meteorological variables, a statistically significant association was found with the level of cloudiness (p = 0.007). According to our results, an increase of one eighth of sky cloud-cover correlated to a 7% increase in total deaths by suicide and the association was especially strong during spring.

Integrating and analyzing medical and environmental data using ETL and Business Intelligence tools.

Processing data that originates from different sources (such as environmental and medical data) can prove to be a difficult task, due to the heterogeneity of variables, storage systems, and file formats that can be used. Moreover, once the amount of data reaches a certain threshold, conventional mining methods (based on spreadsheets or statistical software) become cumbersome or even impossible to apply. Data Extract, Transform, and Load (ETL) solutions provide a framework to normalize and integrate heterogeneous data into a local data store. Additionally, the application of Online Analytical Processing (OLAP), a set of Business Intelligence (BI) methodologies and practices for multidimensional data analysis, can be an invaluable tool for its examination and mining. In this article, we describe a solution based on an ETL + OLAP tandem used for the on-the-fly analysis of tens of millions of individual medical, meteorological, and air quality observations from 16 provinces in Spain provided by 20 different national and regional entities in a diverse array for file types and formats, with the intention of evaluating the effect of several environmental variables on human health in future studies. Our work shows how a sizable amount of data, spread across a wide range of file formats and structures, and originating from a number of different sources belonging to various business domains, can be integrated in a single system that researchers can use for global data analysis and mining.

Does the environment affect suicide rates in Spain? A spatiotemporal analysis. / ¿Afecta el medio a los suicidios que se cometen en España? Análisis descriptivo del patrón temporoespacial.

INTRODUCTION: Suicide is an important public health problem, it represents one of the major causes of unnatural death, and there are many factors that affect the risk of suicidal behaviour. The present study analyzes the temporal and spatial variations of mortality by suicide in Spain and its relationship with gross domestic product (GDP) per capita. MATERIAL AND METHODS: A retrospective study was performed, in which deaths by suicide, sex and age group in 50 Spanish provinces between 2000 and 2012 were analyzed. The annual trend of suicide mortality was assessed using Kendall's tau-b correlation coefficient. Seasonality and monthly and weekly behaviour were evaluated by performing the ANOVA test and the Bonferroni adjustment. Finally, the relationship between GDP per capita and suicide was studied. RESULTS: Between 2000 and 2012, 42,905adult people died by suicide in Spain. The annual average incidence rate was 95 suicides per million population. The regions located in the south and in the northwest of the country registered the highest per capita mortality rates. There is a decreasing trend in mortality by suicide over the period studied (CC=-.744; P=.0004) in adults over the age of 64, and a seasonal behaviour was identified with summer maximum and autumn minimum values (f=.504; P<.0001). The regions with the highest GDP per capita showed the lowest mortality by suicide (r=-.645; P<.0001) and the relationship is stronger among older age groups. CONCLUSIONS: Mortality by suicide does not follow a homogenous geographical distribution in Spain. Mortality in men was higher than in women. Over the period of study, there has been a decrease in mortality by suicide in Spain in adults over the age of 64. The seasonal cycle of suicides and the inverse relationship with GDP per capita found in this study, provide information which may be used as a tool for developing prevention and intervention strategies.

Dificultades forenses y procesales de la sumisión química / Forensic and judicial issues regarding drug-facilitated sexual assault

El uso de sustancias químicas para manipular la voluntad en los delitos sexuales ha venido cobrando protagonismo los últimos años. El presente artículo se desarrolla a propósito de un caso médico-forense en el que una paciente acudió a urgencias y relató haberse despertado en una vivienda junto a un desconocido que intentó mantener una relación sexual con ella agrediéndola ante su oposición. Refiriendo, además, una laguna amnésica en las 3 horas previas. La principal sospecha diagnóstica fue que se tratara de una agresión sexual por sumisión química premeditada. En el trabajo se describen los datos obtenidos tras la exploración de la víctima, las muestras tomadas por el forense y los resultados del Instituto Nacional de Toxicología. Finalmente se plantean las dificultades asociadas a la detección de las sustancias químicas que anulan la voluntad de la persona, así como el enfoque judicial del caso (AU)

The public's awareness of drug-facilitated sexual assault has increased in recent years. This article concerns a forensic case-study regarding a female patient who visited the emergency room to report that she had woken up in a strange house next to an unknown person, who then tried to have sexual relations with her, and who subsequently assaulted her when she offered resistance. Moreover, she has no memory of what happened in the 3hours prior to the incident. he main diagnostic suspicion was that it was a premeditated drug-facilitated sexual assault case. This article describes the data obtained after the physical examination of the victim, the samples taken for forensic analysis and the laboratory results provided by the National Institute of Toxicology. Finally, the difficulties associated with the detection of knock-out drugs, as well as the judicial treatment of the case are presented (AU)

Análisis de la relación entre la enfermedad pulmonar obstructiva crónica y los contaminantes atmosféricos atendiendo al origen y trayectoria de las masas de aire en el Norte de España / Relationship Between Chronic Obstructive Pulmonary Disease and Air Pollutants Depending on the Origin and Trajectory of Air Masses in the North of Spain

Objetivos: La enfermedad pulmonar obstructiva crónica es una enfermedad de alta prevalencia y una de las principales causas de muerte a nivel mundial. El presente trabajo analiza la relación de esta enfermedad con las variables meteorológicas y los niveles de contaminantes atmosféricos en Santander, atendiendo al origen y trayectoria de las masas de aire. Métodos: Se recogieron datos diarios de visitas a urgencias en el Hospital Marqués de Valdecilla de un periodo de 8 años, así como la concentración de los principales contaminantes atmosféricos y de las variables meteorológicas. Posteriormente se calcularon las retrotrayectorias con destino en Santander, a una altura de 1.500m sobre el nivel del terreno. Finalmente, se elaboró un modelo de correlación para evaluar el efecto de los contaminantes sobre las urgencias por EPOC. Resultados. Existe una asociación directa entre los niveles de PM10 y las urgencias por EPOC. Por cada 10 μg/m3 de aumento del contaminante, las urgencias incrementan un 3,34% (p = 0,00005), y el efecto se intensifica en las personas mayores de 74 años. Cuando los niveles de PM10 son dependientes de masas de aire procedentes del Sur, así como ante situaciones de recirculación, el efecto es mayor. Con el resto de contaminantes la relación con las urgencias no es estadísticamente significativa. Conclusiones: La exposición a PM10 provoca descompensaciones en los pacientes con EPOC. Atendiendo al patrón de circulación atmosférica se puede estimar si los niveles de PM10 van a ser elevados, y también se obtiene información sobre los componentes de las partículas (AU)

Objectives: Chronic obstructive pulmonary disease (COPD) is a common respiratory condition and one of the leading causes of death. Our aim was to analyze the association between emergency room visits due to this disease and meteorological variables and atmospheric contaminant levels in Santander, depending on the origin and trajectory of air masses. Methods: Data from emergency room visits at Hospital Marqués de Valdecilla were collected on a daily basis during an 8-year period. Data on concentrations of the main atmospheric pollutants and meteorological variables were also recorded. Retro trajectories leading to Santander at a height of1,500 meters above sea level were then calculated. Finally, a correlation model was produced to evaluate the effect of the contaminants on emergency visits due to COPD. Results: There is a direct association between PM 10 levels and the number of visits to the emergency room due to COPD. For every 10μg/m3 increase in pollutant levels, emergency visits increase by 3.34% (p = 0.00005), and this effect is enhanced in individuals over 74 years of age. This effect is heightened when PM10 levels depend on air masses from the South and when air recirculation occurs. There is no association between other pollutants and the number of visits to the emergency room. Conclusions: Exposure to high levels of PM10 causes exacerbations in COPD patients. By studying the atmospheric circulation pattern, we can predict whether PM10 levels will be inappropriately high, and we can also obtain information about the particle components (AU)

Genetic DNA profile in urine and hair follicles from patients who have undergone allogeneic hematopoietic stem cell transplantation.

Biological samples from patients who have undergone allogeneic hematopoietic stem cell transplantation (HSCT) constitute a challenge for individual identification. In this study we analyzed the genetic profiles (by the amplification of 15 autosomic STRs) of HSCT patients found in different types of samples (blood, hair and urine) that may be the source of DNA in civil or criminal forensic cases. Our results show that while in hair follicles the donor component was not detected in any patient, thus being a reliable source of biological material for forensic identification, mixed chimerism was detected in urine samples from all patient, and no correlation was found between the time elapsed from the transplant and the percentage of chimerism. These results certainly have practical implications if the urine is being considered as a source of DNA for identification purposes in HSTC patients. Moreover, taking into consideration that chimerism was found not only in patients with leukocyturia (given the hematopoietic origin of leukocytes, this was expected), but also in those without observable leukocytes in the sediment, we conclude that an alternative source or sources of donor DNA must be implicated.

Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ.

Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where it originated, as well as its subsequent dynamics. We found that R1b-DF27 is present in frequencies ~40% in Iberian populations and up to 70% in Basques, but it drops quickly to 6-20% in France. Overall, the age of R1b-DF27 is estimated at ~4,200 years ago, at the transition between the Neolithic and the Bronze Age, when the Y chromosome landscape of W Europe was thoroughly remodeled. In spite of its high frequency in Basques, Y-STR internal diversity of R1b-DF27 is lower there, and results in more recent age estimates; NE Iberia is the most likely place of origin of DF27. Subhaplogroup frequencies within R1b-DF27 are geographically structured, and show domains that are reminiscent of the pre-Roman Celtic/Iberian division, or of the medieval Christian kingdoms.

Non-synonymous WNT16 polymorphisms alleles are associated with different osteoarthritis phenotypes.

Hereditary factors have a strong influence on osteoarthritis (OA). The Wnt pathway is involved in bone and cartilage homeostasis. Hence, we hypothesized that allelic variations of WNT16 could influence the OA phenotype. We studied 509 Caucasian patients undergoing joint replacement due to severe primary OA. Radiographs were used to classify the OA as atrophic or hypertrophic. Two nonsynonymous polymorphisms of WNT16 (rs2707466 and rs2908004) were analyzed. The association between the genotypes and the OA phenotype was analyzed by logistic regression and adjusted for age and body mass index. A genotype-phenotype association was found in the sex-stratified analysis. Thus, there was a significant difference in the genotypic frequencies of rs2707466 between hypertrophic and atrophic hip OA in males (p = 0.003), with overrepresentation of G alleles in the hypertrophic phenotype (OR 2.08; CI 1.28-3.38). An association in the same direction was observed between these alleles and the type of knee OA, with G alleles being more common in the hypertrophic than in atrophic knee phenotypes (p = 0.008; OR 1.956, CI 1.19-3.19). Similar associations were found for the rs2908004 SNP, but it only reached statistical significance for knee OA (p = 0.017; OR 0.92, CI 0.86-0.989). This is the first study attempting to explore the association of genetic variants with the OA phenotype. These data suggest the need to consider the OA phenotype in future genetic association studies of OA.