Hristina Kocić, Torello Lotti, Tatjana Jevtović-Stoimenov, Uwe Wollina, Yan Valle, Stevo Lukić, Aleksandra Klisić
{"title":"揭示白癜风发展中的遗传易感性和氧化应激以及人工智能(AI)在诊断和管理中的作用。","authors":"Hristina Kocić, Torello Lotti, Tatjana Jevtović-Stoimenov, Uwe Wollina, Yan Valle, Stevo Lukić, Aleksandra Klisić","doi":"10.5937/jomb0-56661","DOIUrl":null,"url":null,"abstract":"<p><p>Vitiligo is an autoimmune disorder with a complex genetic and epigenetic aetiology, characterised by progressive skin depigmentation. Recent advancements in artificial intelligence (AI) have greatly impacted the understanding, diagnosis, and treatment of vitiligo. The genetic basis of vitiligo is linked to multiple single nucleotide polymorphisms (SNPs) in genes associated with immune function, apoptosis, and melanogenesis, necessitating the integration of AI for more efficient diagnostic tools and personalised therapies. Genome-wide association studies (GWAS) have identified approximately 50 vitiligo-susceptibility genes, including PTPN1, PTPN22, NLRP1, FASLG, and TYR. These genes influence the immune response and melanocyte function, with the transcription factor Nuclear Factor kappa B (NF-kB), playing a central role in inflammatory responses and redox signaling induced by oxidative stress, in conjunction with antioxidant enzymes such as GPx, GST, SOD, and CAT. AI technologies offer a promising avenue for diagnosing vitiligo by combining genetic, clinical, and imaging data, allowing for more accurate classification and personalised treatment strategies. By analysing vast datasets, AI algorithms can identify patterns within complex genetic markers and clinical features, facilitating earlier and more precise detection of vitiligo. Furthermore, AI-driven approaches can optimise therapeutic monitoring, enabling real-time treatment efficacy and disease progression assessment. Integrating AI in vitiligo genetic diagnostics can revolutionise the monitoring of the disorder, improving patient outcomes through personalised, data-driven interventions.</p>","PeriodicalId":16175,"journal":{"name":"Journal of Medical Biochemistry","volume":"44 4","pages":"713-723"},"PeriodicalIF":1.5000,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12363352/pdf/","citationCount":"0","resultStr":"{\"title\":\"Unraveling genetic predisposition and oxidative stress in vitiligo development and the role of artificial intelligence (AI) in diagnosis and management.\",\"authors\":\"Hristina Kocić, Torello Lotti, Tatjana Jevtović-Stoimenov, Uwe Wollina, Yan Valle, Stevo Lukić, Aleksandra Klisić\",\"doi\":\"10.5937/jomb0-56661\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Vitiligo is an autoimmune disorder with a complex genetic and epigenetic aetiology, characterised by progressive skin depigmentation. Recent advancements in artificial intelligence (AI) have greatly impacted the understanding, diagnosis, and treatment of vitiligo. The genetic basis of vitiligo is linked to multiple single nucleotide polymorphisms (SNPs) in genes associated with immune function, apoptosis, and melanogenesis, necessitating the integration of AI for more efficient diagnostic tools and personalised therapies. Genome-wide association studies (GWAS) have identified approximately 50 vitiligo-susceptibility genes, including PTPN1, PTPN22, NLRP1, FASLG, and TYR. These genes influence the immune response and melanocyte function, with the transcription factor Nuclear Factor kappa B (NF-kB), playing a central role in inflammatory responses and redox signaling induced by oxidative stress, in conjunction with antioxidant enzymes such as GPx, GST, SOD, and CAT. AI technologies offer a promising avenue for diagnosing vitiligo by combining genetic, clinical, and imaging data, allowing for more accurate classification and personalised treatment strategies. By analysing vast datasets, AI algorithms can identify patterns within complex genetic markers and clinical features, facilitating earlier and more precise detection of vitiligo. Furthermore, AI-driven approaches can optimise therapeutic monitoring, enabling real-time treatment efficacy and disease progression assessment. Integrating AI in vitiligo genetic diagnostics can revolutionise the monitoring of the disorder, improving patient outcomes through personalised, data-driven interventions.</p>\",\"PeriodicalId\":16175,\"journal\":{\"name\":\"Journal of Medical Biochemistry\",\"volume\":\"44 4\",\"pages\":\"713-723\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2025-07-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12363352/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Biochemistry\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5937/jomb0-56661\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Biochemistry","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5937/jomb0-56661","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
白癜风是一种自身免疫性疾病,具有复杂的遗传和表观遗传病因,以进行性皮肤色素沉着为特征。人工智能(AI)的最新进展极大地影响了白癜风的理解、诊断和治疗。白癜风的遗传基础与免疫功能、细胞凋亡和黑色素生成相关基因中的多个单核苷酸多态性(snp)有关,因此需要将人工智能整合到更有效的诊断工具和个性化治疗中。全基因组关联研究(GWAS)已经确定了大约50个白癜风易感基因,包括PTPN1、PTPN22、NLRP1、FASLG和TYR。这些基因影响免疫反应和黑素细胞功能,转录因子核因子κ B (NF-kB)在氧化应激诱导的炎症反应和氧化还原信号传导中发挥核心作用,与抗氧化酶如GPx、GST、SOD和CAT一起。人工智能技术通过结合遗传、临床和成像数据,为诊断白癜风提供了一条很有前途的途径,允许更准确的分类和个性化的治疗策略。通过分析大量数据集,人工智能算法可以识别复杂遗传标记和临床特征中的模式,促进白癜风的早期和更精确的检测。此外,人工智能驱动的方法可以优化治疗监测,实现实时治疗疗效和疾病进展评估。将人工智能整合到白癜风基因诊断中可以彻底改变对这种疾病的监测,通过个性化、数据驱动的干预措施改善患者的治疗效果。
Unraveling genetic predisposition and oxidative stress in vitiligo development and the role of artificial intelligence (AI) in diagnosis and management.
Vitiligo is an autoimmune disorder with a complex genetic and epigenetic aetiology, characterised by progressive skin depigmentation. Recent advancements in artificial intelligence (AI) have greatly impacted the understanding, diagnosis, and treatment of vitiligo. The genetic basis of vitiligo is linked to multiple single nucleotide polymorphisms (SNPs) in genes associated with immune function, apoptosis, and melanogenesis, necessitating the integration of AI for more efficient diagnostic tools and personalised therapies. Genome-wide association studies (GWAS) have identified approximately 50 vitiligo-susceptibility genes, including PTPN1, PTPN22, NLRP1, FASLG, and TYR. These genes influence the immune response and melanocyte function, with the transcription factor Nuclear Factor kappa B (NF-kB), playing a central role in inflammatory responses and redox signaling induced by oxidative stress, in conjunction with antioxidant enzymes such as GPx, GST, SOD, and CAT. AI technologies offer a promising avenue for diagnosing vitiligo by combining genetic, clinical, and imaging data, allowing for more accurate classification and personalised treatment strategies. By analysing vast datasets, AI algorithms can identify patterns within complex genetic markers and clinical features, facilitating earlier and more precise detection of vitiligo. Furthermore, AI-driven approaches can optimise therapeutic monitoring, enabling real-time treatment efficacy and disease progression assessment. Integrating AI in vitiligo genetic diagnostics can revolutionise the monitoring of the disorder, improving patient outcomes through personalised, data-driven interventions.
期刊介绍:
The JOURNAL OF MEDICAL BIOCHEMISTRY (J MED BIOCHEM) is the official journal of the Society of Medical Biochemists of Serbia with international peer-review. Papers are independently reviewed by at least two reviewers selected by the Editors as Blind Peer Reviews. The Journal of Medical Biochemistry is published quarterly.
The Journal publishes original scientific and specialized articles on all aspects of
clinical and medical biochemistry,
molecular medicine,
clinical hematology and coagulation,
clinical immunology and autoimmunity,
clinical microbiology,
virology,
clinical genomics and molecular biology,
genetic epidemiology,
drug measurement,
evaluation of diagnostic markers,
new reagents and laboratory equipment,
reference materials and methods,
reference values,
laboratory organization,
automation,
quality control,
clinical metrology,
all related scientific disciplines where chemistry, biochemistry, molecular biology and immunochemistry deal with the study of normal and pathologic processes in human beings.