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.
January 2008 in “Annals of Nutrition and Metabolism” This study suggests that a specific region upstream of the TGF-β1 gene may play a key role in androgenetic alopecia by regulating gene expression in a cell-specific manner.
December 2012 in “http://isrctn.org/>” December 2025 in “ILDS-DEV”
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.
December 2012 in “http://isrctn.org/>” 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.
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.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
May 2025 in “BMC Genomics” This study found that circ 0020938 suppresses hair follicle stem cell proliferation by interacting with the miR-142-5p/DSG4 axis, which aids in the hair follicle cycle's proper progression.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” April 2021 in “Journal of Investigative Dermatology” August 2023 in “Zenodo (CERN European Organization for Nuclear Research)” 7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
August 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
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.
This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.
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.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
76 citations
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January 1998 in “Mammalian Genome” August 2023 in “Zenodo (CERN European Organization for Nuclear Research)” 2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
February 2007 in “Journal of Clinical Dermatology” 4 citations
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May 2024 in “Cytotechnology” August 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
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.