April 2025 in “British Journal of Dermatology” This study identified three genetic loci influencing hair density in East Asian populations and found associations with demographic and lifestyle factors like age, sex, and BMI. The results also suggest possible genotype-specific responses to finasteride for managing hair disorders.
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
September 2023 in “Journal of the American Academy of Dermatology”
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
1 citations
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September 2023 in “Acta dermato-venereologica” In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
7 citations
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January 2015 in “Dermatology” This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This phase 2a trial evaluated Samcyprone for common wart treatment and found that while a sensitization reaction is necessary for therapeutic response, its level does not predict wart clearance.
July 2025 in “Journal of Investigative Dermatology” 12 citations
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June 2016 in “Clinical and experimental dermatology” This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
2 citations
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May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
March 2024 in “Research Square (Research Square)” This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.
November 2020 in “Journal of The American Academy of Dermatology” This study reported that using plain bottles instead of commercial kits for extracting platelet-rich plasma may be an effective method for treating hair loss.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
April 2022 in “Microbiology and Immunology” This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
March 2026 in “Jurnal Biomedika dan Kesehatan” In this pilot study of Indonesians, the rs1998076 genetic variant was not significantly linked to androgenetic alopecia, though the GG genotype showed a non-significant trend toward higher odds, while clinical factors like age and hypertension were correlated with increased risk.
9 citations
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May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.