Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model

In recent years, several studies have greatly increased our understanding of the genetic basis underlying human eye colour variation. A large percentage of the eye colour diversity present in humans can already be genetically explained, so much so that different DNA-based eye colour prediction models, such as IrisPlex, have been recently developed for forensic purposes. Though these models are already highly accurate, they are by no means perfect, with many genotype-phenotype discrepancies still remaining unresolved. In this work we have genotyped six SNPs associated with eye colour (IrisPlex) in 535 individuals from Spain, a Mediterranean population. Aside from different SNP frequencies in Spain compared to Northern Europe, the results for eye colour prediction are quite similar to other studies. However, we have found an association between gender and eye colour prediction. When comparing similar eye colour genetic profiles, females tend, as a whole, to have darker eyes than males (and, conversely, males lighter than females). These results are also corroborated by the revision and meta-analysis of data from previously published eye colour genetic studies in several Caucasian populations, which significantly support the fact that males are more likely to have blue eyes than females, while females tend to show higher frequencies of green and brown eyes than males. This significant gender difference would suggest that there is an as yet unidentified gender-related factor contributing to human eye colour variation

Análisis de la asociación entre sexo y diferencias en pigmentación humana según el genotipo del gen MC1R

Introducción: La pigmentación cutánea basal y la respuesta al sol por bronceamiento son rasgos hereditarios influidos por varios genes, entre los que el gen mc1r es uno de los más importantes. Mutaciones en este gen afectan a los niveles y tipos de me-lanina dando lugar a patrones alterados de pigmentación. Recientemente, se ha iden-tificado una asociación entre el genotipo del gen oca2, el color de ojos y el sexo, su-giriendo que existe un factor relacionado con el sexo que contribuye a las variaciones en la pigmentación del iris humano. El actual estudio consistió en analizar una posible asociación entre el sexo y diferentes características fenotípicas de pigmentación, te-niendo en cuenta el genotipo del gen mc1r. metodología: Se recogieron datos feno-típicos de 446 individuos sanos (212 hombres y 234 mujeres) y 706 individuos con melanoma (325 hombres y 379 mujeres). Se secuenció el gen mc1r en todas las muestras, clasificando las muestras en wtmc1r (wild-type) o mutmc1r (mutante). Para el análisis estadístico se utilizó el software SPSS v20. resultados: Las mujeres pre-sentan una mayor asociación a fototipos i y ii, tanto al analizar el total de individuos como en individuos sanos y con melanoma por separado (p = 0,008, 0,014 y 0,024, respectivamente). Esta asociación se mantiene en muestras mutmc1r (p = 0,037), pero no en muestras wtmc1r (p = 0,061). Las mujeres también presentan menor nú-mero de nevus (p = 0,001), aunque esta asociación desaparece en individuos control y con genotipo mutmc1r. conclusión: Los resultados muestran una asociación entre el sexo y variaciones en la pigmentación, especialmente en lo que se refiere a la res-puesta y sensibilidad al sol. Además, esta asociación no parece ser independiente del genotipo de mc1rIntroduction: Basal skin pigmentation and sun-tanning capacity are hereditary traits influenced by several genes, including the mc1r gene. Mutations in this gene affect the levels and types of melanin produced, resulting in altered pigmentation patterns. Re-cently, we have identified an association between oca2 genotype, eye color and sex, suggesting that there is a sex-related factor contributing to changes in iris pigmentation. In this study, we analyzed a possible association between sex and different phenotypic pigmentation characteristics, taking into account the mc1r genotype. methodology: Phe-notypic data of 446 healthy individuals (212 men and 234 women) and 706 patients with melanoma (325 men and 379 women) were collected. The mc1r gene was sequenced in all samples, sorting the samples in wtmc1r (wild-type) or mutmc1r (mutant). For statistical analysis SPSS v20 software was used. results: Women have a greater as-sociation with skin phototypes i and ii, both when analyzing the total sample set as well as healthy and melanoma individuals separately (p = 0,008, 0,014 and 0,024, respec-tively). That association is observed in mutmc1r samples (p = 0,037) but not in wtmc1r samples (p = 0,061). Women also present fewer nevi (p = 0,001), although this asso-ciation disappears in controls and in mutmc1r samples. conclusion: The results show an association between sex and pigmentation variations, particularly with respect to the response and sensitivity to the sun. Moreover, this association does not appear to be independent of the mc1r genotype

The Impact of Bioinformatics on Vaccine Design and Development

Vaccines are the pharmaceutical products that offer the best cost‐benefit ratio in the prevention or treatment of diseases. In that a vaccine is a pharmaceutical product, vaccine development and production are costly and it takes years for this to be accomplished. Several approaches have been applied to reduce the times and costs of vaccine development, mainly focusing on the selection of appropriate antigens or antigenic structures, carriers, and adjuvants. One of these approaches is the incorporation of bioinformatics methods and analyses into vaccine development. This chapter provides an overview of the application of bioinformatics strategies in vaccine design and development, supplying some successful examples of vaccines in which bioinformatics has furnished a cutting edge in their development. Reverse vaccinology, immunoinformatics, and structural vaccinology are described and addressed in the design and development of specific vaccines against infectious diseases caused by bacteria, viruses, and parasites. These include some emerging or re‐emerging infectious diseases, as well as therapeutic vaccines to fight cancer, allergies, and substance abuse, which have been facilitated and improved by using bioinformatics tools or which are under development based on bioinformatics strategies

Genetic 3’UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight

Sunlight exposure induces signalling pathways leading to the activation of melanin synthesis and tanning response. MicroRNAs (miRNAs) can regulate the expression of genes involved in pigmentation pathways by binding to the complementary sequence in their 3′untranslated regions (3′UTRs). Therefore, 3′UTR SNPs are predicted to modify the ability of miRNAs to target genes, resulting in differential gene expression. In this study, we investigated the role in pigmentation and sun-sensitivity traits, as well as in melanoma susceptibility, of 38 different 3′UTR SNPs from 38 pigmentation-related genes. A total of 869 individuals of Spanish origin (526 melanoma cases and 343 controls) were analysed. The association of genotypic data with pigmentation traits was analysed via logistic regression. Web-based tools for predicting the effect of genetic variants in microRNA-binding sites in 3′UTR gene regions were also used. Seven 3′UTR SNPs showed a potential implication in melanoma risk phenotypes. This association is especially noticeable for two of them, rs2325813 in the MLPH gene and rs752107 in the WNT3A gene. These two SNPs were predicted to disrupt a miRNA-binding site and to impact on miRNA-mRNA interaction. To our knowledge, this is the first time that these two 3′UTR SNPs have been associated with sun-sensitivity traits. We state the potential implication of these SNPs in human pigmentation and sensitivity to sunlight, possibly as a result of changes in the level of gene expression through the disruption of putative miRNA-binding sites

Water UV-C treatment alone or in combination with peracetic acid: A technology to maintain safety and quality of strawberries

Disinfection of fruits is one of the most important steps since they are going to be eaten fresh-or minimally-processed. This step affects quality, safety, and shelf-life of the product. Despite being a common sanitizer in the fruit industry, chlorine may react with organic matter leading to the formation of toxic by-products. Alternative sustainable disinfection strategies to chlorine are under study to minimize environmental and human health impact. Water-assisted UV-C light (WUV-C) is proposed here as an alternative sanitizing method for strawberries. In this study, strawberries were washed for 1 or 5 min in a tank with 2 or 4 lamps on, each emitting UV-C light at 17.2 W/cm2, or in a chlorine solution (200 ppm, pH 6.5). Moreover, trials with 4 lamps on, together with a washing solution consisting on peracetic acid at 40 or 80 ppm, were carried out. Overall, quality and nutritional parameters of strawberries after treatments were maintained. Changes in color were not noticeable and fruits did not lose firmness. No major changes were observed in antioxidant activity, organic acid, anthocyanin, vitamin C, and total phenolic content. Yeasts and molds were not affected by the WUV-C treatment, and 5 min were needed to significantly reduce total aerobic mesophylls population. However, reductions of artificially inoculated Listeria innocua and Salmonella Typhimurium after WUV-C treatments were comparable to those obtained with chlorine-wash, which were 3.0 log CFU / g. Moreover, WUV-C light was effective to minimize microorganisms remaining in washing water, avoiding cross-contamination and thus, allowing water recirculation. This effect was improved when combining the action of UV-C light with peracetic acid, showing the suitability of this combined treatment, understood as an alternative to chlorine sanitation, for sanitizing strawberries and keeping the populations of pathogenic bacteria in washing water lower than 0.6 ± 0.1 log CFU / mL.The authors are thankful to ‘Ministerio de Economía, Industria y Competitividad’ for the financial support of the project AGL2016-78086-R. I. Nicolau-Lapeña is in receipt of a predoctoral grant awarded by the ‘Ministerio de Economía, Industria y Competitividad’ (grant number BES-2017-079779). Dr. I. Aguiló-Aguayo thanks the National Programme for the Promotion of Talent and Its Employability of the ‘Ministerio de Economía, Industria y Competitividad’ of the Spanish Government and the European Social Fund for her Postdoctoral Senior Grant ‘Ramon y Cajal’ (RYC-2016-2019 949)

Violencia ocupacional en un hospital manifestada a través de reclamaciones

La reorganización de los servicios públicos de salud como empresas de mercado, reconfigura los roles tradicionales de paciente y profesional, así como las relaciones entre ambos. Paralelamente, emergen riesgos de violencia ocupacional de pacientes a profesionales que les atienden. El objetivo de este trabajo es identificar y describir formas de violencia ocupacional manifestadas por escrito a través de un proceso de reclamación. De los textos registrados en los formularios de reclamación de un hospital de Barcelona entre 2012 y 2017, seleccionamos n=201 casos con connotaciones claras de violencia de los que se obtuvo, además, otras documentaciones relacionadas con el caso objeto de la reclamación, como, por ejemplo, las alegaciones/respuesta a las reclamaciones. Un análisis de contenido permitió evidenciar y categorizar diferentes formas de expresión o manifestaciones de violencia. La información sobre los "motivos" declarados en la reclamación violenta complementa y matiza la obtenida mediante encuestas o entrevistas y señala factores de riesgo para una acción preventiva.The public health services reorganization as market companies reconfigures the traditional roles of patient and professional, as well as the relationships between them. In parallel, risks of occupational violence from patients to professionals who attend them emerge. The aim of this paper is to identify and describe written forms of occupational violence manifested through a claim process. From the texts registered in complaint forms of a hospital in Barcelona between 2012 and 2017, we selected n=201 cases with evident connotations of violence from which we obtained, in addition, other documentation related to the case that is the subject of the complaint, such as response arguments. A content analysis allowed us to evidence and categorize different forms of violence expression. The information on the declared "grounds" of the violent claim complements and qualifies what has been obtained through surveys or interviews and brings up risk factors for a preventive action

Sun exposure and PDZK1 genotype modulate PDZK1 gene expression in normal skin

Human skin pigmentation results from the enzymatically controlled synthesis of melanin pigments in specialized organelles (melano‐somes) produced within epidermal melanocytes, followed by their transfer to neighboring keratinocytes and their distribution through‐out the epidermis.1 Constitutive skin pigmentation seems to be mostly genetically determined,2 being altered by numerous intrinsic and extrinsic factors affecting the epidermal melanin uni

Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population

Background Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed. Lately, genome-wide association studies (GWAS) have been the ideal strategy to identify new common, low-penetrance susceptibility loci. In this case–control study, we try to validate in our population nine melanoma associated markers selected from published GWAS in melanoma predisposition. Methods We genotyped the 9 markers corresponding to 8 genes (PARP1, MX2, ATM, CCND1, NADSYN1, CASP8, IRF4 and CYP2R1) in 566 cases and 347 controls from a Spanish population using KASPar probes. Genotypes were analyzed by logistic regression and adjusted by phenotypic characteristics. Results We confirm the protective role in MM of the rs3219090 located on the PARP1 gene (p-value 0.027). Additionally, this SNP was also associated with eye color (p-value 0.002). A second polymorphism, rs12203592, located on the IRF4 gene was associated with protection to develop MM for the dominant model (p-value 0.037). We have also observed an association of this SNP with both lentigines (p-value 0.014) and light eye color (p-value 3.76 × 10-4). Furthermore, we detected a novel association with rs1485993, located on the CCND1 gene, and dark eye color (p-value 4.96 × 10-4). Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. Conclusions To our knowledge, this is the first time that these SNPs have been associated with MM in a Spanish population. We confirmed the proposed role of rs3219090, located on the PARP1 gene, and rs12203592, located on the IRF4 gene, as protective to MM along the same lines as have previous genome-wide associated works. Finally, we have seen associations between IRF4, PARP1, and CCND1 and phenotypic characteristics, confirming previous results for the IRF4 gene and presenting novel data for the last two, suggesting that pigmentation characteristics correlated with eye color are potential mediators between PARP1 and MM protection