June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
4 citations
,
November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
This study identified four genes related to alopecia areata: GIMAP6 and ALOX15 as risk factors, and GALNT6 and HEG1 as protective factors, noting significant validation differences in GALNT6 and HEG1.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential of ZDHHC17 methylation as a biomarker or therapeutic target in addressing skin aging, offering new insights into its molecular mechanisms.
43 citations
,
November 2018 in “Nature Communications” This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
December 2025 in “BMC Medical Genomics” This study demonstrated that RNA-seq can effectively expand hair follicle transcriptomic profiling in a multi-center study, offering deeper insights than blood transcriptomics alone.
February 2025 in “Clinical Cosmetic and Investigational Dermatology” This study used Mendelian randomization analysis to find a significant causal relationship between high fasting insulin levels and androgenetic alopecia, while identifying potential core genes and metabolic pathways that could mediate this link.
57 citations
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November 2017 in “Nature Communications” This genome-wide association study identified 71 genetic loci linked to male pattern baldness, with 30 novel loci, explaining 38% of the risk and suggesting shared pathways with lifespan and cancer traits.
7 citations
,
March 2013 in “British Journal of Dermatology” No genetic link between prostaglandins and hair loss found.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
August 2025 in “Scientific Reports” This study found that the protein C4BPA may link insulin resistance and acne vulgaris by influencing lipid metabolism and inflammatory pathways, suggesting it as a potential mediator in the pathogenesis of both conditions.
336 citations
,
August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
58 citations
,
December 2020 in “Mayo Clinic Proceedings” This paper discusses the variability in COVID-19 susceptibility and severity, emphasizing factors like biological differences and suggesting potential precision medicine approaches, but it reports no new clinical results.
17 citations
,
June 2020 in “Animals” This study identified differentially expressed mRNAs and lncRNAs in Hu sheep hair follicles, suggesting certain genes and pathways are involved in the development of wool curvature patterns.
13 citations
,
December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
2 citations
,
January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
359 citations
,
September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
29 citations
,
March 2023 in “European Journal of Human Genetics” This study identified four new genetic loci associated with acne risk and highlighted key pathways involved in its genetic predisposition, potentially explaining 9.4% of acne's phenotypic variance.
2 citations
,
April 2025 in “Journal of Investigative Dermatology” T cells affect skin cell genes in inflammatory diseases, and therapy can normalize these changes.
26 citations
,
May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
9 citations
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December 2023 in “BMC Genomics” This study examined noninvasive tissue samples, including buccal swabs, hair follicles, saliva, and urine cell pellets, and found hair follicles and urine cell pellets promising for transcriptomic and clinical analyses due to their sample quality and performance in disease-relevant applications.
November 2025 in “Free Radical Biology and Medicine” This study identified ten potential therapeutic targets and biomarkers for androgenic alopecia, with SOD1 and KL as particularly promising candidates for future therapies.
19 citations
,
November 2021 in “Reviews in endocrine and metabolic disorders” This article discusses the role of sex hormones in COVID-19 fatality differences between sexes and reports no new clinical results, suggesting that future strategies should consider sex-specific approaches.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
112 citations
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September 2021 in “BMC Biology” This study found that specific gene expressions during different stages of hair follicle development in Merino sheep are linked to wool-related traits, and may also be relevant to human skin, metabolic, and immune traits.
5 citations
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December 2022 in “Genes” This review discusses the host genetic factors influencing COVID-19 susceptibility and pathogenesis, highlighting genetic variations that affect viral entry and immune responses, but reports no new experimental results.