RESUMO
Phenotypic trait prediction in ancient DNA analysis can provide information about the external appearance of individuals from past human populations. Some studies predicting eye and hair color in ancient adult skeletons have been published, but not for ancient subadult skeletons, which are more prone to decay. In this study, eye and hair color were predicted for an early medieval adult skeleton and a subadult skeleton that was anthropologically characterized as a middle-aged man and a subadult of unknown sex about 6 years old. When processing the petrous bones, precautions were taken to prevent contamination with modern DNA. The MillMix tissue homogenizer was used for grinding, 0.5 g of bone powder was decalcified, and DNA was purified in Biorobot EZ1. The PowerQuant System was used for quantification and a customized version of the HIrisPlex panel for massive parallel sequencing (MPS) analysis. Library preparation and templating were performed on the HID Ion Chef Instrument and sequencing on the Ion GeneStudio S5 System. Up to 21 ng DNA/g of powder was obtained from ancient petrous bones. Clean negative controls and no matches with elimination database profiles confirmed no contamination issue. Brown eyes and dark brown or black hair were predicted for the adult skeleton and blue eyes and brown or dark brown hair for the subadult skeleton. The MPS analysis results obtained proved that it is possible to predict hair and eye color not only for an adult from the Early Middle Ages, but also for a subadult skeleton dating to this period.
Assuntos
Cor de Olho , Cor de Cabelo , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Criança , Cor de Olho/genética , Cor de Cabelo/genética , Pós , DNA/genética , Osso e Ossos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Human skin and hair color are visible traits that can vary dramatically within and across ethnic populations. The genetic makeup of these traits-including polymorphisms in the enzymes and signaling proteins involved in melanogenesis, and the vital role of ion transport mechanisms operating during the maturation and distribution of the melanosome-has provided new insights into the regulation of pigmentation. A large number of novel loci involved in the process have been recently discovered through four large-scale genome-wide association studies in Europeans, two large genetic studies of skin color in Africans, one study in Latin Americans, and functional testing in animal models. The responsible polymorphisms within these pigmentation genes appear at different population frequencies, can be used as ancestry-informative markers, and provide insight into the evolutionary selective forces that have acted to create this human diversity.
Assuntos
Cor de Olho/genética , Cor de Cabelo/genética , Melaninas/biossíntese , Transtornos da Pigmentação/genética , Pigmentação/genética , Pigmentação da Pele/genética , Olho/metabolismo , Regulação da Expressão Gênica , Cabelo/metabolismo , Humanos , Queratinócitos/metabolismo , Queratinócitos/patologia , Melaninas/genética , Melanócitos/metabolismo , Melanócitos/patologia , Oxigenases de Função Mista/genética , Oxigenases de Função Mista/metabolismo , Transtornos da Pigmentação/fisiopatologia , Grupos Raciais/genética , Pele/metabolismoRESUMO
BACKGROUND: The concept of hair transparency has been claimed widely in the Japan (and now it is spreading to Asian) hair color market. Despite the general use of this concept, to date, there is no clear and objective description to accurately explain what it is. In this work, we have decoded and gave clarity to the concept of hair transparency via a technical model (validated for both Japan and China markets) composed of measurable parameters of hair property using a single device. METHODOLOGY AND RESULTS: A comprehensive study composed of various tests was used, starting with a qualitative identification of key parameters via in-depth workshop discussions with over 40 Japanese stylists and a panel of 12 consumers. These identified parameters (luminosity, color visibility, and Shine) were then translated into technically measurable parameters of the hair fiber (Diffused light intensity, ratio of RGB channel intensities of Diffused light, and luster) via a single instrument-Hair SAMBA (a dual-polarized imaging system). Afterward, 10 carefully selected anchor shades were used as visual stimuli in an online pairwise comparison (PC) study with 100 Japanese stylists to generate quantitative transparency perception data of the swatches. Technical parameters of these swatches were measured by SAMBA and consolidated with the PC output, for the creation and validation of the mathematical model. After, with another PC study (N = 100) in China, with seven shades from Japan study and 6 additional Chinese market shades, the applicability of the model in China market was validated. CONCLUSION: We have clarified and quantified the concept of hair transparency through a consumer centric approach and with objective data. Our findings will enable the development of optimum transparent shades which better suits consumer needs. Lastly, we would like to highlight the beauty of digitalization in the study: The digital evaluation pathways chosen allowed us to collect quantitative consumer data from two countries for the creation of a robust model under the impact of COVID-19 and would definitely be the way to go for our future consumer evaluation studies.
Assuntos
COVID-19 , Ásia , Cabelo , Humanos , Percepção , SARS-CoV-2RESUMO
OBJECTIVE: To determine the aesthetical accordance between a given skin tone and the 11 possible colours of head hairs, covered by a marketed hair colouration product. MATERIAL AND METHODS: The photographs of professional top models, representing several ancestries (non-Hispanic European and Euro-American, East Asian, Hispanic Euro-American, and African-American ancestries), were used to virtually modify skin tones (from light, medium to dark) and hair colour by an artificial intelligence (AI)-based algorithm. Hence, 117 modified photographs were then assessed by five local panels of about 60 women each (one in China, one in France and three in US). The same questionnaire was given to the panels, written in their own language, asking which and how both skin tones and hair colours fit preferentially (or not appreciated), asking in addition the reasons of their choices, using fixed wordings. RESULTS: Answers from the five panels differed according to origin or cultural aspects, although some agreements were found among both non-Hispanic European and Euro-American groups. The Hispanic American panel in US globally much appreciated darker hair tones (HTs). Two panels (East Asian in China and African American in US) and part of non-Hispanic European panel in France declared appreciating all HTs, almost irrespective with the skin tone (light, medium and dark). This surprising result is very likely caused by gradings (in %) that differ by too low values, making the establishment of a decisive or significant assessment. By nature highly subjective (culturally and/or fashion driven), the assessments should be more viewed as trends, an unavoidable limit of the present virtual approach. The latter offers nevertheless a full respect of ethical rules as such objective could hardly be conducted in vivo: applying 10 or 11 hair colourations on the same individual is an unthinkable option. CONCLUSION: The virtual approach developed in the present study that mixes two major facial coloured phenotypes seems at the crossroad of both genetic backgrounds and the secular desire of a modified appearance. Nonetheless, this methodology could afford, at the individual level in total confidentiality, a great help to subjects exposed to some facial skin disorders or afflictions.
Assuntos
Cor de Cabelo , Pigmentação da Pele , Inteligência Artificial , Povo Asiático , Feminino , Patrimônio Genético , HumanosRESUMO
This paper presents a method for genotyping a panel of 60 single nucleotide polymorphisms (SNPs) using single-stage PCR followed by hybridization on a hydrogel biochip. The pool of analyzed polymorphisms consists of 41 SNPs included in the HIrisPlex-S panel, 4 SNPs of the AB0 gene (261G>Del, 297A>G, 657C>T, 681G>A), markers of the AMELX and AMELY genes, and 14 SNP markers of the Y chromosome haplogroups: B (M60), C (M130), D (CTS3946), E (M5388), G (P257), H (M2920), I (U179), J (M304), L (M185), N (M231), O (M175), Q (M1105), R (P224) and T (M272). These genetic data allow one to predict the phenotype of the desired person according to the characteristics of eye, hair, skin color, AB0 blood group, sex, and genogeographic origin in the male line. The setting protocol is simplified as much as possible to facilitate the introduction of the method into practice. The distribution of allele frequencies of the studied polymorphisms, as well as AB0 blood groups among the Slavs (N = 482), originating mainly from central Russia, was established.
Assuntos
Sistema ABO de Grupos Sanguíneos , Cromossomos Humanos Y , Cor de Olho , Técnicas de Genotipagem , Cor de Cabelo , Análise de Sequência com Séries de Oligonucleotídeos , Pigmentação da Pele , Sistema ABO de Grupos Sanguíneos/genética , Cromossomos Humanos Y/genética , Cor de Olho/genética , Cor de Cabelo/genética , Haplótipos , Humanos , Hidrogéis , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Polimorfismo de Nucleotídeo Único , Pigmentação da Pele/genética , População Branca/genéticaRESUMO
BACKGROUND: Plexiform neurofibromas (PNs) are congenital tumors that affect around 50 % of the subjects with neurofibromatosis type 1. Despite being histologically benign, PNs can grow rapidly, especially in the pediatric age, and cause severe morbidities. In the past, various therapeutic approaches have been proposed to treat these masses, none of which obtained valuable results. Selumetinib, an inhibitor of mitogen-activated protein kinase (MEK) 1 and 2, has been the first molecule to demonstrate the ability of tackling the growth of PNs. The drug's most common side effects, which usually are mild or moderate, include gastrointestinal symptoms (diarrhea, abdominal pain), dermatologic manifestations (maculo-papular and acneiform rash, paronychia, mucositis), and various laboratory test abnormalities (elevation of creatine kinase and aminotransferase). CASES PRESENTATION: We report two previously undescribed adverse events in pediatric patients: peripheral edema and hair color change. The first case of peripheral edema occurred in a 7-year-old boy affected by a severe form of NF1, after two years of treatment with selumetinib at the standard dose (25 mg/m2twice a day). The edema involved the right leg, and the patient did not complain of pain. The second case of peripheral edema occurred in a 12-year-old girl after six months of therapy with selumetinib at the standard dose, involving her lower left leg. The patient initially complained of pain in that area, but it gradually and spontaneously resolved. In both patients, all the radiological exams, including lymphoscintigraphy, pelvic and abdominal ultrasound, and doppler ultrasound of the affected limb, as well as blood tests, revealed no abnormalities. Hair color change appeared in a 4-year-old boy after six months of therapy at the standard dose. The boy's hair, whose natural color was dark blonde, became lighter in some areas. Despite the appearance of these side effects, all the patients and their families decided to continue the treatment with selumetinib, in considerations of its clinical benefits. CONCLUSIONS: Since the use of selumetinib to treat plexiform neurofibromas is increasing in the pediatric population, clinicians should be aware of its side effects, so to decide whether continuing the treatment, reducing the dose or even interrupting it, when appropriate.
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Neurofibroma Plexiforme , Benzimidazóis , Criança , Pré-Escolar , Edema/induzido quimicamente , Feminino , Cor de Cabelo , Humanos , Masculino , Neurofibroma Plexiforme/induzido quimicamente , Neurofibroma Plexiforme/diagnóstico por imagem , Neurofibroma Plexiforme/tratamento farmacológicoRESUMO
BACKGROUND: Predicting the eye and hair color from genotype became an established and widely used tool in forensic genetics, as well as in studies of ancient human populations. However, the accuracy of this tool has been verified on the West and Central Europeans only, while populations from border regions between Europe and Asia (like Caucasus and Ural) also carry the light pigmentation phenotypes. RESULTS: We phenotyped 286 samples collected across North Eurasia, genotyped them by the standard HIrisPlex-S markers and found that predictive power in Caucasus/Ural/West Siberian populations is reasonable but lower than that in West Europeans. As these populations have genetic ancestries different from that of West Europeans, we hypothesized they may carry a somewhat different allele spectrum. Thus, for all samples we performed the exome sequencing additionally enriched with the 53 genes and intergenic regions known to be associated with the eye/hair color. Our association analysis replicated the importance of the key previously known SNPs but also identified five new markers whose eye color prediction power for the studied populations is compatible with the two major previously well-known SNPs. Four out of these five SNPs lie within the HERС2 gene and the fifth in the intergenic region. These SNPs are found at high frequencies in most studied populations. The released dataset of exomes from Russian populations can be further used for population genetic and medical genetic studies. CONCLUSIONS: This study demonstrated that precision of the established systems for eye/hair color prediction from a genotype is slightly lower for the populations from the border regions between Europe and Asia that for the West Europeans. However, this precision can be improved if some newly revealed predictive SNPs are added into the panel. We discuss that the replication of these pigmentation-associated SNPs on the independent North Eurasian sample is needed in the future studies.
Assuntos
DNA , Cor de Cabelo , Ásia , Europa (Continente) , Cor de Olho/genética , Humanos , Polimorfismo de Nucleotídeo Único , Federação RussaRESUMO
A loss-of-function mutation in the melanocortin 1 receptor gene (MC1R), which switches off the eumelanin production, causes yellowish coat color variants in mammals. In a wild population of sables (Martes zibellina) in Hokkaido, Japan, the mutation responsible for a bright yellow coat color variant was inferred to be a cysteine replacement at codon 35 of the N-terminal extracellular domain of the Mc1r receptor. In the present study, we validated these findings by applying genome editing on Mc1r in mouse strains C3H/HeJ and C57BL/6N, altering the codon for cysteine (Cys33Phe). The resulting single amino acid substitution (Cys33Phe) and unintentionally generated frameshift mutations yielded a color variant exhibiting substantially brighter body color, indicating that the Cys35 replacement produced sufficient MC1R loss of function to confirm that this mutation is responsible for producing the Hokkaido sable yellow color variant. Notably, the yellowish mutant mouse phenotype exhibited brown coloration in subapical hair on the dorsal side in both the C3H/HeJ and C57BL/6N strains, despite the inability of the latter to produce the agouti signaling protein (Asip). This darker hair and body coloration was not apparent in the Hokkaido sable variant, implying the presence of an additional genetic system shaping yellowish hair variability.
Assuntos
Cisteína/genética , Edição de Genes , Cor de Cabelo/genética , Mutação , Fenótipo , Receptor Tipo 1 de Melanocortina/genética , Animais , Mutação com Perda de Função , Camundongos , Camundongos Knockout , Receptor Tipo 1 de Melanocortina/químicaRESUMO
OBJECTIVE: A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (SBE) typing. The SNPs chosen for the study allow to determine the hair colors and eye colors of humans. MATERIAL AND METHODS: The DNA samples were extracted from the skeletal remains of 59 human individuals dating back to the Late Bronze Age. The 3,000 years old bones had been discovered in the Lichtenstein Cave in Lower Saxony, Germany. The simultaneous typing of 24 SNPs for each of the ancient DNA samples was carried out using the 192.24 Dynamic Array™ by Fluidigm®. RESULTS: Thirty-eight of the ancient samples (=64%) revealed full and reproducible SNP genotypes allowing hair and eye color phenotyping. In 10 samples (=17%) at least half of the SNPs were unambiguously determined, in 11 samples (=19%) the SNP typing failed. For 23 of the 59 individuals, a comparison of the SNP typing results with genotypes from an earlier performed SBE typing approach was possible. The comparison confirmed the full concordance of the results for 90% of the SNP typings. In the remaining 10% allelic dropouts were identified. DISCUSSION: The high genotyping success rate could be achieved by introducing modifications to the preamplification protocol mainly by increasing the DNA input and the amplification cycle number. The occurrence of allelic dropouts indicates that a further increase of DNA input to the preamplification step is desirable.
Assuntos
DNA Antigo/análise , Cor de Olho/genética , Genótipo , Cor de Cabelo/genética , Polimorfismo de Nucleotídeo Único , Arqueologia , Restos Mortais , Alemanha , História Antiga , HumanosRESUMO
This study examined 266 individuals from various populations including African American, East Asian, South Asian, European, and mixed populations to evaluate the ForenSeq™ Signature Prep Kit Primer Mix B. Focus was placed on phenotypic and biogeographical ancestry predictions by Illumina's Universal Analysis Software (UAS). These outcomes were compared to those obtained through web-tools developed at the Erasmus Medical Center (EMC) and available from the Forensic Resource/Reference on Genetics-knowledge base (FROG-kb), as well as to eye color predictions by the 8-plex system. Due to drop-outs, predictions for eye and hair color by UAS failed for various samples in each run. By including reads below thresholds, predictions could be obtained for all samples through the web-tools. Eye and hair color predictions for African Americans, East Asians, and South Asians showed no errors. Difficulties however, were noted in intermediate (neither blue nor brown) eye color predictions. These were mitigated by the 8-plex system through exclusion of one eye color (e.g. "not brown"). Additionally, notable discrepancies were observed in hair color predictions, where some black/dark-brown haired individuals were predicted to have blond hair. Overall, ancestry predictions were more accurate by FROG-kb compared to UAS, which did not predict South Asian ancestry, particularly Indian individuals.
Assuntos
Cor de Olho , Cor de Cabelo , Grupos Raciais , Software , Impressões Digitais de DNA , Etnicidade , Humanos , Internet , FenótipoRESUMO
BACKGROUND: The Fitzpatrick skin phototype scale (FSPTS) is a widely used instrument to assess skin type. METHODS: A cross-sectional survey collected responses from 254 subjects from Quito regarding self-reported FSPTS, gender, age, education, and tobacco and alcohol consumption. Univariate and multivariate logistic regression analyses were performed to determine if ethnicity, hair color, and eye color significantly predict FSPTS. In addition, we studied the correlation between FSPTS and the SCINEXA scale with Pearson's correlation coefficient. RESULTS: Ethnicity, eye color, and hair color are significant independent predictors of FSPTS (p < 0.0001). CONCLUSIONS: Patient self-reported race and pigmentary phenotypes are inaccurate predictors of sun sensitivity as defined by Fitzpatrick skin phototype. Our study does not fully represent the population of the country. There are limitations to using patient-reported race and appearance in predicting individual sunburn risk.
Assuntos
Transtornos de Fotossensibilidade/classificação , Transtornos de Fotossensibilidade/epidemiologia , Pigmentação da Pele , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Equador/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Fotossensibilidade/diagnóstico , Transtornos de Fotossensibilidade/fisiopatologia , Grupos Raciais , Fatores de Risco , Autorrelato , Pigmentação da Pele/fisiologia , Queimadura Solar/diagnóstico , Queimadura Solar/epidemiologia , Queimadura Solar/etnologia , Queimadura Solar/fisiopatologia , Bronzeado/fisiologiaRESUMO
OBJECTIVE: Research documents that even subtle changes in visible skin condition affect perceptions of age, health, and attractiveness. There is evidence that hair quality also affects the assessment of physical appearance, as variations in hair diameter, hair density, and hair style have systematic effects on perception. Here, we consider combined effects of hair color and skin color on the perception of female physical appearance. METHODS: In two experiments, we digitally manipulated facial skin color of lightly-pigmented, young women, both between-subjects (Experiment 1) and within-subjects (Experiment 2), and investigated possible interactions with hair color in regard to age, health, and attractiveness perception. RESULTS: In both experiments, we detected hair color and skin color interaction effects on men's and women's assessments. For between-subjects comparisons, participants with lighter hair color were judged to be younger than those with darker shades; this effect was more pronounced in women with light skin color. No such effect was observed for within-subjects variation in skin color. Both experiments showed that smaller perceived contrast between hair color and skin color resulted in more positive responses. CONCLUSION: We conclude that hair color and facial skin color together have an effect on perceptions of female age, health, and attractiveness in young women, and we discuss these findings with reference to the literature on the role of hair and skin in the assessment of female physical appearance. This article is protected by copyright. All rights reserved.
RESUMO
We identified the genetic variants for eye color by Genome-Wide Association Study (GWAS) in a Dutch Caucasian family-based population sample and examined the genetic correlation between hair and eye color using data from unrelated participants from the Netherlands Twin Register. With the Genome-wide Complex Trait Analysis software package, we found strong genetic correlations between various combinations of hair and eye colors. The strongest positive correlations were found for blue eyes with blond hair (0.87) and brown eyes with dark hair (0.71), whereas blue eyes with dark hair and brown eyes with blond hair showed the strongest negative correlations (-0.64 and -0.94, respectively). Red hair with green/hazel eyes showed the weakest correlation (-0.14). All analyses were corrected for age and sex, and we explored the effects of correcting for principal components (PCs) that represent ancestry and describe the genetic stratification of the Netherlands. When including the first three PCs as covariates, the genetic correlations between the phenotypes disappeared. This is not unexpected since hair and eye colors strongly indicate the ancestry of an individual. This makes it difficult to separate the effects of population stratification and the true genetic effects of variants on these particular phenotypes.
Assuntos
Cor de Olho/genética , Genética Populacional , Estudo de Associação Genômica Ampla , Cabelo/metabolismo , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Fenótipo , Polimorfismo de Nucleotídeo Único , População BrancaRESUMO
BACKGROUND: Fitzpatrick skin phototype (FSPT) is the most common method used to assess sunburn risk and is an independent predictor of skin cancer risk. Because of a conventional assumption that FSPT is predictable based on pigmentary phenotypes, physicians frequently estimate FSPT based on patient appearance. OBJECTIVE: We sought to determine the degree to which self-reported race and pigmentary phenotypes are predictive of FSPT in a large, ethnically diverse population. METHODS: A cross-sectional survey collected responses from 3386 individuals regarding self-reported FSPT, pigmentary phenotypes, race, age, and sex. Univariate and multivariate logistic regression analyses were performed to determine variables that significantly predict FSPT. RESULTS: Race, sex, skin color, eye color, and hair color are significant but weak independent predictors of FSPT (P<.0001). A multivariate model constructed using all independent predictors of FSPT only accurately predicted FSPT to within 1 point on the Fitzpatrick scale with 92% accuracy (weighted kappa statistic 0.53). LIMITATIONS: Our study enriched for responses from ethnic minorities and does not fully represent the demographics of the US population. CONCLUSIONS: Patient self-reported race and pigmentary phenotypes are inaccurate predictors of sun sensitivity as defined by FSPT. There are limitations to using patient-reported race and appearance in predicting individual sunburn risk.
Assuntos
Etnicidade/genética , Predisposição Genética para Doença/epidemiologia , Grupos Raciais/genética , Autorrelato , Pigmentação da Pele/genética , Pele/efeitos da radiação , Adulto , Fatores Etários , Análise de Variância , California/epidemiologia , Estudos Transversais , Feminino , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Fenótipo , Transtornos de Fotossensibilidade/etnologia , Transtornos de Fotossensibilidade/genética , Valor Preditivo dos Testes , Medição de Risco , Fatores Sexuais , Neoplasias Cutâneas/etnologia , Neoplasias Cutâneas/genética , Pigmentação da Pele/fisiologia , Queimadura Solar/etnologia , Queimadura Solar/genética , Inquéritos e Questionários , Adulto JovemRESUMO
The human red hair color (RHC) trait is caused by increased pheomelanin (red-yellow) and reduced eumelanin (black-brown) pigment in skin and hair due to diminished melanocortin 1 receptor (MC1R) function. In addition, individuals harboring the RHC trait are predisposed to melanoma development. While MC1R variants have been established as causative of RHC and are a well-defined risk factor for melanoma, it remains unclear mechanistically why decreased MC1R signaling alters pigmentation and increases melanoma susceptibility. Here, we use single-cell RNA sequencing (scRNA-seq) of melanocytes isolated from RHC mouse models to define a MC1R-inhibited Gene Signature (MiGS) comprising a large set of previously unidentified genes which may be implicated in melanogenesis and oncogenic transformation. We show that one of the candidate MiGS genes, TBX3, a well-known anti-senescence transcription factor implicated in melanoma progression, binds both E-box and T-box elements to regulate genes associated with melanogenesis and senescence bypass. Our results provide key insights into further mechanisms by which melanocytes with reduced MC1R signaling may regulate pigmentation and offer new candidates of study toward understanding how individuals with the RHC phenotype are predisposed to melanoma.
Assuntos
Melanoma , Camundongos , Animais , Humanos , Melanoma/metabolismo , Receptor Tipo 1 de Melanocortina/genética , Receptor Tipo 1 de Melanocortina/metabolismo , Melanócitos/metabolismo , Pigmentação/genética , Regulação da Expressão Gênica , Cor de CabeloRESUMO
Previous observational studies have indicated an association between hair color and the risk of melanoma and keratinocyte skin cancer (KSC); however, different hair colors show inconsistent effects on skin cancers. Here, we conducted a two-sample Mendelian randomization (MR) study to evaluate the causal relationship between natural hair color and skin cancers by using 211 single nucleotide polymorphisms as genetic instruments from a genome-wide meta-analysis of 360,270 individuals of European ancestry. Light hair colors (red, blonde, and light brown) were associated with high levels of cutaneous melanoma (CM) and KSC (CM-inverse variance weighted [IVW] odds ratio [OR]-red: 1.034, 95% confidence interval [CI]: 1.025-1.044, P < 0.001; OR-blonde: 1.008, 95% CI: 1.003-1.014, P = 0.003; OR-light brown: 1.006, 95% CI: 1.002-1.011, P = 0.009; KSC-IVW OR-red: 1.078, 95% CI: 1.053-1.103, P < 0.001; OR-blonde: 1.024, 95% CI: 1.009-1.040, P = 0.002; OR-light brown: 1.018, 95% CI: 1.004-1.033, P = 0.01). However, dark brown hair showed an inverse causal relationship with skin cancers (CM IVW OR: 0.987, 95% CI: 0.984-0.990, P < 0.001; KSC IVW OR: 0.979, 95% CI: 0.970-0.988, P < 0.001). Black hair was associated with a decreased risk of KSC (IVW OR: 0.954, 95% CI: 0.913-0.997, P = 0.036) but showed no causal relationship with CM. The present study provides strong MR evidence of a causal association between hair color and skin cancer. Secondary MR analyses enhances result robustness by replicating findings, exploring gender-specific effects, and providing a more comprehensive understanding of the complex relationship between hair color and skin cancers. More large-scale MR studies or randomized controlled trials are required to further investigate the mechanisms of the association between hair color and skin cancers.
Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/genética , Melanoma/genética , Cor de Cabelo/genética , Análise da Randomização Mendeliana , Polimorfismo de Nucleotídeo Único , Estudo de Associação Genômica Ampla , Melanoma Maligno CutâneoRESUMO
This study aims to investigate human hair color perception through two empirical studies in the context of colored hair. The preliminary study was intended to establish a numerical representation of perceptually meaningful brightness levels. It identified that the brightness level was proportional to the power of 0.766 of L*. In the visual assessment, participants (N = 47) categorized 246 hair color samples into eight color hue groups aligned with the Munsell system. Hue judgment was conducted by visually comparing dyed hair tresses with natural black hair. Based on the L*, a*, and b* values of hair tresses and visual assessments thereof, we observed the ranges of hue categories for hair color alongside the brightness levels. Additionally, the differences between the Munsell hue names and the assessment results were compared. Predominantly influenced by the dark brown hair color, the neutral orientation was shifted to the first quadrant of the a*-b* plane. The study contributes to an understanding of human hair color perception and provides insights into color categorization and labeling, especially when the context is confined.
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Cor de Cabelo , Julgamento , Humanos , Percepção de Cores , CorRESUMO
OBJECTIVES: The collection of genotype data was conducted as an essential part of a pivotal research project with the goal of examining the genetic variability of skin, hair, and iris color among the Kazakh population. The data has practical application in the field of forensic DNA phenotyping (FDA). Due to the limited size of forensic databases from Central Asia (Kazakhstan), it is practically impossible to obtain an individual identification result based on forensic profiling of short tandem repeats (STRs). However, the pervasive use of the FDA necessitates validation of the currently employed set of genetic markers in a variety of global populations. No such data existed for the Kazakhs. The Phenotype Expert kit (DNA Research Center, LLC, Russia) was used for the first time in this study to collect data. DATA DESCRIPTION: The present study provides genotype data for a total of 60 SNP genetic markers, which were analyzed in a sample of 515 ethnic Kazakhs. The dataset comprises a total of 41 single nucleotide polymorphisms (SNPs) obtained from the HIrisPlex-S panel. Additionally, there are 4 SNPs specifically related to the AB0 gene, 1 marker associated with the AMELX/Y genes, and 14 SNPs corresponding to the primary haplogroups of the Y chromosome. The aforementioned data could prove valuable to researchers with an interest in investigating genetic variability and making predictions about phenotype based on eye color, hair color, skin color, AB0 blood group, gender, and biogeographic origin within the male lineage.
Assuntos
Sistema ABO de Grupos Sanguíneos , População da Ásia Central , Cromossomos Humanos Y , Haplótipos , Pigmentação , Humanos , Masculino , Sistema ABO de Grupos Sanguíneos/genética , População da Ásia Central/genética , Cromossomos Humanos Y/genética , DNA/genética , Marcadores Genéticos , Genética Populacional , Genótipo , Cabelo , Haplótipos/genética , Polimorfismo de Nucleotídeo Único/genética , Pigmentação da Pele/genética , Pigmentação/genética , Variação Genética/genéticaRESUMO
Increased lung cancer risks among hairdressers were observed in large registry-based cohort studies from Scandinavia, but these studies could not adjust for smoking. Our objective was to evaluate the lung cancer risk among hairdressers while adjusting for smoking and other confounders in a pooled database of 16 case-control studies conducted in Europe, Canada, China, and New Zealand between 1985 and 2010 (the Pooled Analysis of Case-Control Studies on the Joint Effects of Occupational Carcinogens in the Development of Lung Cancer). Lifetime occupational and smoking information was collected through interviews with 19,369 cases of lung cancer and 23,674 matched population or hospital controls. Overall, 170 cases and 167 controls had ever worked as hairdresser or barber. The odds ratios for lung cancer in women were 1.65 (95% confidence interval (CI): 1.16, 2.35) without adjustment for smoking and 1.12 (95% CI: 0.75, 1.68) with adjustment for smoking; however, women employed before 1954 also experienced an increased lung cancer risk after adjustment for smoking (odds ratio = 2.66, 95% CI: 1.09, 6.47). The odds ratios in male hairdressers/barbers were generally not elevated, except for an increased odds ratio for adenocarcinoma in long-term barbers (odds ratio = 2.20, 95% CI: 1.02, 4.77). Our results suggest that the increased lung cancer risks among hairdressers are due to their smoking behavior; single elevated risk estimates should be interpreted with caution and need replication in other studies.
Assuntos
Barbearia/estatística & dados numéricos , Neoplasias Pulmonares/epidemiologia , Doenças Profissionais/epidemiologia , Exposição Ocupacional/efeitos adversos , Fumar/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Neoplasias Pulmonares/patologia , Masculino , Doenças Profissionais/patologia , Razão de Chances , Fatores de Risco , Fatores Sexuais , Fatores de TempoRESUMO
Research suggests that hair color, hair dyeing, and perspiration can bias hair test results regarding drug exposure, but research is needed to examine such associations in a multivariable manner. In this epidemiology study, adults were surveyed entering nightclubs and dance festivals in New York City, and 328 provided hair samples, which were analyzed using ultra-high-performance liquid chromatography-tandem mass spectrometry to determine the level of detection of cocaine and 3,4-methylenedioxymethamphetamine (MDMA). Reporting use was not an inclusion criterion for analysis. We used two-part multivariable models to delineate associations of hair color, past-year hair dyeing, and frequency of past-month hat wearing (which may increase perspiration) in relation to any vs. no detection of cocaine and MDMA as well as level of detection, controlling for hair length, self-reported past-year cocaine/ecstasy/MDMA use, and age, sex, and race/ethnicity. Those reporting having dyed their hair were at increased odds of having any level of cocaine detected (adjusted odds ratio [aOR] = 3.75, 95% CI confidence interval [CI]: 1.85-6.70), and compared to those with brown hair, those with blond(e) hair on average had lower levels of cocaine (ng/mg) detected (beta = -7.97, p = 0.025). Those reporting having dyed their hair were at increased odds of having any level of MDMA detected (aOR = 3.05, 95% CI: 1.44-6.48), and compared to those who reported never wearing a hat, those who reported wearing a hat daily or almost daily on average had lower levels of MDMA (ng/mg) detected (beta = -6.61, p = 0.025). This study demonstrates the importance of using multivariable models to delineate predictors of drug detection.