Dermatology最新文献

{"title":"Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study.","authors":"Anouk E M Nouwen, Aviël Ragamin, Maria J Knol, Hagen Ott, Lisa Weibel, Cristina Has, Alain Hovnanian, Amy S Paller, Christine Bodemer, Virgil A S H Dalm, Suzanne G M A Pasmans, Renske Schappin","doi":"10.1159/000542215","DOIUrl":"10.1159/000542215","url":null,"abstract":"<p><strong>Introduction: </strong>Netherton syndrome (NS; OMIM#256500) is a rare and severe disorder of epidermal maturation and keratinization caused by pathogenic variants in the serine protease inhibitor Kazal type 5 (SPINK5), leading to severe skin barrier impairment. Although effective treatment is crucial for NS patients, there is a lack of knowledge on what the best treatment options are for these patients. Large heterogeneity in reported outcomes and measurement instruments hinders accurate comparison of treatment results across studies and the development of a treatment guideline. Therefore, we aimed to develop a core outcome set (COS) for NS that can be used in clinical care and research.</p><p><strong>Methods: </strong>This study was performed in accordance with the recommendations of the Core Outcome Measures in Effectiveness Trials (COMET) initiative. After identification of outcomes through a literature search and classification based on the International Classification of Functioning and taxonomies published by the COMET initiative, discussion groups were organized at the 2nd International Netherton Congress 2022 to finalize the provisional outcome list. Through a 2-round e-Delphi, 41 stakeholders (patients and family members, professionals, and representatives of industry) from 14 countries rated the importance of the outcomes using a 9-point Likert scale. An online consensus meeting attended by 14 stakeholders finalized the COS.</p><p><strong>Results: </strong>The COS for NS comprised 21 outcomes in 10 domains. These included four \"skin\" outcomes, two \"sensation\" outcomes, two \"side-effects of treatment\" outcomes, one \"vitality\" outcome, one \"emotional functioning\" outcome, two \"physical development\" outcomes, two \"nutrition\" outcomes, two \"infections\" outcomes, two \"allergies\" outcomes, and three \"assessment results\" outcomes.</p><p><strong>Conclusion: </strong>In this study, consensus was reached on 21 outcomes to be included in the COS for NS. The selection of outcomes in the COS underlines that NS not only affects the skin but is a disease requiring a broad multidisciplinary approach in clinical care and research. International implementation of this COS will lead to more uniform reporting, thereby enabling comparison of study results, which may facilitate future treatment guideline development. The next step is to further conceptually define the outcomes and reach consensus on how to measure these.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"1-14"},"PeriodicalIF":3.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Safety of Upadacitinib versus Dupilumab Treatment for Moderate-to-Severe Atopic Dermatitis in Four Body Regions: Analysis from the Heads Up Study.","authors":"Jacob P Thyssen, David Rosmarin, Antonio Costanzo, Richard Warren, Chia-Yu Chu, Raj Chovatiya, Barry Ladizinski, Xiaofei Hu, Yingyi Liu, Brian Calimlim, Chudi Nduaka, Namita Vigna, April Armstrong","doi":"10.1159/000542275","DOIUrl":"10.1159/000542275","url":null,"abstract":"<p><strong>Introduction: </strong>Upadacitinib has demonstrated high and rapid rates of efficacy in adolescent and adult patients with moderate-to-severe atopic dermatitis (AD) as assessed by the Eczema Area and Severity Index (EASI). This post hoc analysis assessed the EASI response in four anatomical regions for patients with moderate-to-severe AD treated with upadacitinib compared to dupilumab over 24 weeks.</p><p><strong>Methods: </strong>Data from patients randomized 1:1 to receive upadacitinib 30 mg extended-release tablet orally once daily or dupilumab 300 mg by subcutaneous injection every 2 weeks after a loading dose of 600 mg in the Heads Up study were analyzed for achievement of ≥75%, ≥90%, or 100% reduction of EASI in four body regions: (1) head and neck, (2) trunk (including genitals), (3) upper limbs, and (4) lower limbs (including buttocks) at each study visit through week 24. Patient response data from the Head and Neck Patient Global Impression of Severity (HN-PGIS) were also analyzed at each study visit for comparison of upadacitinib to dupilumab.</p><p><strong>Results: </strong>Greater proportions of patients treated with upadacitinib versus dupilumab achieved skin clearance rates of ≥75% (EASI 75) at week 1 and higher clearance rates of ≥90% (EASI 90) or 100% (EASI 100) by week 4 or earlier in all four body regions. This difference was maintained at each visit through week 24 for both EASI 90 and EASI 100. Patient responses on the HN-PGIS indicated that a greater proportion of patients (nominal p value <0.05) treated with upadacitinib compared to dupilumab reported that AD symptoms in the head and neck region were absent or minimal as early as week 1.</p><p><strong>Conclusion: </strong>Compared to dupilumab, upadacitinib treatment provided higher rates of rapid, sustained efficacy for the head and neck, trunk, upper limbs, and lower limbs for the treatment of moderate-to-severe AD as measured by the EASI and supported by patient responses.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"1-9"},"PeriodicalIF":3.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Hidradenitis Suppurativa and Gout: A Propensity Score-Matched Cohort Study.","authors":"Hui-Chin Chang, Tsu-Man Chiu, Ru-Yin Tsai, Chen-Pi Li, Yu-Lun Wu, Shiu-Jau Chen, Shuo-Yan Gau","doi":"10.1159/000541969","DOIUrl":"10.1159/000541969","url":null,"abstract":"<p><strong>Introduction: </strong>While an association between hidradenitis suppurativa (HS) and inflammatory arthritis has been reported in clinical studies, the potential link between HS and gout remains uncertain. As HS and gout share common immunological pathways, we conducted a retrospective cohort study to determine whether HS patients are at an increased risk of developing gout in the future.</p><p><strong>Methods: </strong>This retrospective multicenter cohort study obtained information through the US collaborative network, a subset of the TriNetX research network. Patients diagnosed with HS between January 01, 2005, and December 31, 2017, were recruited, and a 1:1 propensity score matching was conducted to identify appropriate controls. The hazard ratio (HR) for the new-onset gout in HS patients was subsequently calculated.</p><p><strong>Results: </strong>Compared to individuals without HS, those with HS were associated with a 1.39-fold higher risk (95% confidence interval [CI], 1.20, 1.62) of developing new-onset gout within 5 years after the index date. This association remained significant in shorter follow-up times and sensitivity analyses utilizing different matching models. For both male and female HS patients, the risk of developing new-onset gout within 5 years after the index date was statistically significant, with respective HRs of 1.61 (95% CI, 1.28, 2.02) for males and 1.41 (95% CI, 1.11,1.78) for females.</p><p><strong>Conclusion: </strong>HS patients are at a high risk of developing gout within 5 years after an HS diagnosis while comparing with non-HS controls.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"1-8"},"PeriodicalIF":3.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence-Driven Skin Aging Simulation as a Novel Skin Cancer Prevention.","authors":"Lorena Gantenbein, Sara Elisa Cerminara, Julia-Tatjana Maul, Alexander A Navarini, Lara Valeska Maul","doi":"10.1159/000541943","DOIUrl":"10.1159/000541943","url":null,"abstract":"<p><strong>Introduction: </strong>Skin cancer, a prevalent cancer type among fair-skinned patients globally, poses a relevant public health concern due to rising incidence rates. Ultraviolet (UV) radiation poses a major risk factor for skin cancer. However, intentional tanning associated with sunburns remains a common practice, notably among female adults. Appropriate prevention campaigns targeting children and adolescents are needed to improve sun protection behavior particularly in these age groups. The aim of our study was to investigate if an AI-based simulation of facial skin aging can enhance sun protection behavior in female adults.</p><p><strong>Methods: </strong>In this single-center, prospective, observational pilot study at Department of Dermatology at the University Hospital of Basel, we took photographs of healthy young females' faces with a VISIA-CR camera (Version 8.2; Canfield Scientific Inc., Parsippany, NJ, USA) between February and March 2021. Digital images were performed in three angles (straight, left 45°, and right 45°). All participants received an AI-based simulation of their facial skin with continuous aging to 80 years. A newly created anonymous questionnaire capturing participants' sociodemographic data and also tanning and sun protection behavior was completed in pre- and post-aging simulation. To observe long-term effects, a 2-year follow-up was conducted between March and April 2023.</p><p><strong>Results: </strong>The 60 participants (mean age 23.6 ± 2.5 years) evaluated the importance of sun protection significantly higher after skin aging simulation with VISIA-CR camera (p < 0.0001; 95% CI: 8.2-8.8). Post-intervention, 91.7% (55/60) of the females were motivated to reduce UV exposure and to intensify UV protection in the future since the individual UV-dependent risk was perceived significantly higher (p < 0.001; 95% CI: 5.9-6.7). At 2-year follow-up, 96% (24/25) indicated persistent effort reducing UV exposure. The preference for SPF 50+ sunscreen increased to 46.7% (28/65) directly after the skin aging simulation and continued to rise up to 60.0% (15/25) after 2 years.</p><p><strong>Conclusions: </strong>Our data emphasize the potential of AI-assisted photoaging interventions to enhance motivation for UV protection in the short and the long term. We encourage that different age and gender groups are addressed in a personalized, generation-specific manner with the appropriate media and by considering the Hawthorne effect. Campaigns with visual AI support can improve the intent of cancer-preventative behavior.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"1-13"},"PeriodicalIF":3.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency of Atopic Dermatitis and Psoriasis in the Elderly: Cross-Sectional Findings from the German AugUR Study.","authors":"Karl Philipp Drewitz, Klaus J Stark, Martina E Zimmermann, Iris M Heid, Christian J Apfelbacher","doi":"10.1159/000541590","DOIUrl":"10.1159/000541590","url":null,"abstract":"<p><strong>Introduction: </strong>Atopic dermatitis (AD) and psoriasis appear to affect 2-3% (lifetime prevalence) people worldwide. However, there are little epidemiological data on the prevalence of those two chronic inflammatory skin diseases in the elderly. The aim of this study was to provide frequency estimates of AD and psoriasis obtained from an elderly population in Germany.</p><p><strong>Methods: </strong>We examined baseline data from the AugUR study, a cohort study focusing on an aging population in the city and the vicinity of Regensburg, Germany. We estimated raw frequencies of physician-diagnosed AD and psoriasis from participants' self-reports in personal interviews. These frequencies were adjusted to reflect the demographic distribution of the Bavarian population, considering both sex and age groupings spanning 5 or 10 years and reported with 95% confidence interval (CI).</p><p><strong>Results: </strong>Data from 1,133 participants aged 70-95 (median age 76.7 years, 45.1% women) were available for analysis. Physician-diagnosed AD was reported by 3.3% (95% CI: 2.3-4.5) of participants (2.4% from men, 4.3% from women) and 5.6% (95% CI: 4.3-7.1%) reported physician-diagnosed psoriasis (6.6% in men, 4.3% in women). Age- and sex-standardized frequency estimates for AD were 3.4% (95% CI: 2.4-4.6, 2.6% in men, 4.3% in women) and 5.3% for psoriasis (95% CI: 4.1-6.8, 6.3% in men and 4.1% in women).</p><p><strong>Conclusion: </strong>This study indicates a lower than previously reported lifetime prevalence of AD (3.4% vs. 8-10%) and a higher one regarding psoriasis (5.3% vs. 2-4%) in highly aged individuals. More epidemiological research in elderly populations using validated physician diagnoses is desirable.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"1-9"},"PeriodicalIF":3.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hidradenitis suppurativa prevalence in Algeria: A multicenter cross-sectional study.","authors":"Ahmed Samaouel Chehad, Samira Zobiri, Dorra Bouazzi, Cecilia E Medianfar, Robin Christensen, Gregor B E Jemec, Amina Serradj","doi":"10.1159/000539599","DOIUrl":"https://doi.org/10.1159/000539599","url":null,"abstract":"<p><p>Introduction Although there has been an expansion of knowledge on hidradenitis suppurativa (HS), data about the disease is largely based on Western population and no relevant African or Asian studies are available. Methods We conducted a descriptive, cross-sectional, multicenter study, as part of GHiSA (Global HS Atlas) initiative, to assess the epidemiologic profile of HS in Algerian population. Healthy adults accompanying patients undergoing care in a non-dermatological wards were approached and invited to complete a self-administered questionnaire. Subsequently, a clinical assessment was performed by an in-person dermatologists for all screen-positive participants and ten percent of the screen-negative ones. Results A total of 1434 participants were included in this study. The prevalence of HS among Algerian adults was 0.78%. Compared to non HS group, no significant difference was found regarding gender, age, body mass index and smoker status. Both the sensitivity (100%) and the specificity (97%) of the HS screening questionnaire were excellent. Conclusion The prevalence of HS in Algeria is very close to that of Australia (0.8%) and Europe (0.7%) and almost the same prevalence found by Ghanaian study (other GHiSA study from Africa). The results of this study demonstrate also the reliability and validity of GHiSA questionnaire as HS data collection instrument.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hidradenitis suppurativa prevalence in Algeria: A multicenter cross-sectional study.","authors":"Ahmed Samaouel Chehad, Samira Zobiri, Dorra Bouazzi, Cecilia E Medianfar, Robin Christensen, Gregor B E Jemec, Amina Serradj","doi":"10.1159/000539599","DOIUrl":"https://doi.org/10.1159/000539599","url":null,"abstract":"<p><p>Introduction Although there has been an expansion of knowledge on hidradenitis suppurativa (HS), data about the disease is largely based on Western population and no relevant African or Asian studies are available. Methods We conducted a descriptive, cross-sectional, multicenter study, as part of GHiSA (Global HS Atlas) initiative, to assess the epidemiologic profile of HS in Algerian population. Healthy adults accompanying patients undergoing care in a non-dermatological wards were approached and invited to complete a self-administered questionnaire. Subsequently, a clinical assessment was performed by an in-person dermatologists for all screen-positive participants and ten percent of the screen-negative ones. Results A total of 1434 participants were included in this study. The prevalence of HS among Algerian adults was 0.78%. Compared to non HS group, no significant difference was found regarding gender, age, body mass index and smoker status. Both the sensitivity (100%) and the specificity (97%) of the HS screening questionnaire were excellent. Conclusion The prevalence of HS in Algeria is very close to that of Australia (0.8%) and Europe (0.7%) and almost the same prevalence found by Ghanaian study (other GHiSA study from Africa). The results of this study demonstrate also the reliability and validity of GHiSA questionnaire as HS data collection instrument.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update in diagnosis, treatment, and prevention of osteochondritis dissecans of the capitellum.","authors":"Michel Pj van den Bekerom, Huub H de Klerk, Roger van Riet","doi":"10.1177/17585732231190011","DOIUrl":"10.1177/17585732231190011","url":null,"abstract":"<p><p>Osteochondritis dissecans of the capitellum is debilitating and is a potentially sports career-ending injury in a young and athletic population. Osteochondritis dissecans typically occurs in patients between the ages of 10 and 24 years, and boys are more commonly affected than girls. Conventional radiographs have low diagnostic accuracy, and magnetic resonance imaging (with or without contrast) or computed tomography may aid in accurate diagnosis. The primary indication for non-operative treatment is the presence of an intact cartilage cap on magnetic resonance imaging, indicating a \"stable lesion.\" However, if operative treatment is necessary, various surgical procedures are available when operative treatment for an osteochondritis dissecans of the capitellum is considered, including open or arthroscopic removal of loose bodies, with or without microfracturing, fragment fixation, osteochondral autograft transplantation, and osteochondral allograft transplantation. The decision-making process for selecting the appropriate treatment considers factors such as the patient's characteristics, functional limitations, and lesion morphology.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":"118 1","pages":"24-34"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10901169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86855911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of Type 1 Diabetes Mellitus in Patients with Atopic Dermatitis: A Nationwide Population-Based Cohort Study.","authors":"Meng-Chieh Li, Chun-Ying Wu, Yun-Ting Chang, Ying-Syuan Lyu, Chen-Yi Wu","doi":"10.1159/000535848","DOIUrl":"10.1159/000535848","url":null,"abstract":"<p><strong>Introduction: </strong>Atopic dermatitis (AD) is a disease frequently occurring in children. The immune response is characterized by T-helper (Th)-2-dependent inflammation. Type 1 diabetes mellitus (T1DM) is an autoimmune disease that destroys pancreatic islet beta cells. In contrast, it is mainly mediated by a Th-1-dependent response. An inverted association has been hypothesized between T1DM and AD since Th1 and Th2 responses are mutually inhibitory.</p><p><strong>Methods: </strong>Data was retrieved from a nationwide healthcare database in Taiwan. A logistic regression model was used to evaluate the association of T1DM in patients with AD within a year. A Cox proportional hazards analysis was used to evaluate the subsequent risk of developing T1DM 1 year after AD diagnosis.</p><p><strong>Results: </strong>We identified 396,461 patients with AD and 1,585,844 age- and sex-matched controls. During the first year of follow-up, after adjusting variates, the association between T1DM and AD showed no statistical differences (odds ratio: 1.40; 95% confidence interval [CI]: 0.83-2.38, p = 0.207). After excluding those T1DM cases within 1 year of AD diagnosis and those with a follow-up duration of less than 1 year, AD did not significantly increase the risk of T1DM (hazard ratio [HR]: 1.02; 95% CI, 0.83-1.25, p = 0.843).</p><p><strong>Conclusions: </strong>Our study revealed that there was no significant association between AD and T1DM in the first year after AD diagnosis, and there was no increased risk of T1DM in AD patients in the average 5-year follow-up in our study.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"254-261"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138828704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of TNF-α as Major Susceptible Risk Locus for Vitiligo: A Systematic Review and Meta-Analysis Study in the Asian Population.","authors":"Tithi Dutta, Sambuddha Sengupta, Suchismita Adhya, Arpan Saha, Debmalya Sengupta, Ritisri Mondal, Swarnadru Naskar, Samsiddhi Bhattacharjee, Mainak Sengupta","doi":"10.1159/000536480","DOIUrl":"10.1159/000536480","url":null,"abstract":"<p><strong>Introduction: </strong>Vitiligo is a common depigmentation disorder characterized by defined white patches on the skin and affecting around 0.5% to 2% of the general population. Genetic association studies have identified several pre-disposing genes and single nucleotide polymorphisms (SNPs) for vitiligo pathogenesis; nonetheless, the reports are often conflicting and rarely conclusive. This comprehensive meta-analysis study was designed to evaluate the effect of the risk variants on vitiligo aetiology and covariate stratified vitiligo risk in the Asian population, considering all the studies published so far.</p><p><strong>Methods: </strong>We followed a systematic and comprehensive search to identify the relevant vitiligo-related candidate gene association studies in PubMed using specific keywords. After data extraction, we calculated, for the variants involved, the study-level unadjusted odds ratio, standard errors, and 95% confidence intervals by using logistic regression with additive, dominant effect, and recessive models using R software package (R, 3.4.2) \"metafor.\" Subgroup analysis was performed using logistic regression (generalized linear model; \"glm\") of disease status on subgroup-specific genotype counts. For a better understanding of the likely biological function of vitiligo-associated variant obtained through the meta-analysis, in silico functional analyses, through standard publicly available web tools, were also conducted.</p><p><strong>Results: </strong>Thirty-one vitiligo-associated case-control studies on eleven SNPs were analysed in our study. In the fixed-effect meta-analysis, one variant upstream of TNF-α gene: rs1800629 was found to be associated with vitiligo risk in the additive (p = 4.26E-06), dominant (p = 1.65E-7), and recessive (p = 0.000453) models. After Benjamini-Hochberg false discovery rate (FDR) correction, rs1800629/TNF-α was found to be significant at 5% FDR in the dominant (padj = 1.82E-6) and recessive models (padj = 0.0049). In silico characterization revealed the prioritized variant to be regulatory in nature and thus having potential to contribute towards vitiligo pathogenesis.</p><p><strong>Conclusion: </strong>Our study constitutes the first comprehensive meta-analysis of candidate gene-based association studies reported in the whole of the Asian population, followed by an in silico analysis of the vitiligo-associated variant. According to the findings of our study, TNF-α single nucleotide variant rs1800629G&gt;A has a risk association, potentially contributing to vitiligo pathogenesis in the Asian population.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"376-386"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139912331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}