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Imputation provides an opportunity to study filaggrin ( ) null mutations in large population cohorts that lack bespoke genotyping.
Wellcome Open Res
May 2024
2. Centre for Genomics and Experimental Medicine, Institute for Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Background: Null mutations within the filaggrin ( ) gene are established genetic risk factors for atopic dermatitis. Studies of have typically used sequencing or bespoke genotyping. Large-scale population cohorts with genome-wide imputed data offer powerful genetic analysis opportunities, but bespoke genotyping is often not feasible in such studies.
View Article and Find Full Text PDFFilaggrin Mutation Status and Prevention of Atopic Dermatitis with Maternal Probiotic Supplementation.
Acta Derm Venereol
April 2024
Department of Public Health and Nursing, NTNU - Norwegian University of Science and Technology, Trondheim, Norway.
The World Allergy Organization recommends probiotics in the prevention of atopic dermatitis in high-risk populations. Mutations in the filaggrin gene (FLG) result in an increased risk of atopic dermatitis through disruption of the skin keratin layer. This exploratory study investigated whether the preventive effect of maternal probiotics was evident in children with and without FLG mutations.
View Article and Find Full Text PDFAssociation between polymorphisms and atopic dermatitis susceptibility: A systematic review and meta-analysis.
Gene
June 2024
Department of Dermatology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, China; Department of Allergy, Chongqing General Hospital, Chongqing 400014, China. Electronic address:
Aim: Atopic dermatitis (AD) is a chronic pruritic inflammatory skin disease that is closely linked to genetic factors. Previous studies have revealed numerous single nucleotide polymorphisms (SNPs) that been related to susceptibility to AD; however, the results are conflicting. Therefore, a meta-analysis was conducted to assess the associations of these polymorphisms and AD risk.
View Article and Find Full Text PDFGenotype Study of Filaggrin Gene Loss-of-Function Mutations in Central India Population with Atopic Dermatitis and Ichthyosis Vulgaris.
Indian Dermatol Online J
August 2023
Department of Molecular and Virology Research and Diagnostic Laboratory, Sri Aurobindo Medical College and Post Graduate Institute, Sri Aurobindo University, Indore, Madhya Pradesh, India.
Background: A genotype study of filaggrin gene loss-of-function mutations in central India can provide valuable insights into the prevalence and association of these mutations with atopic dermatitis (AD) and ichthyosis vulgaris (IV) in the region. The R501X and 2282del4 are both genetic variants in the human gene called filaggrin gene (), which encodes a protein that plays an important role in the formation and maintenance of the skin barrier. In this study, we determined the R501X and 2282del4 variants association with both AD and IV in Central Indian populations.
View Article and Find Full Text PDFFilaggrin Gene Mutation in Pediatric Patients with Atopic Dermatitis: A Look into Indian Gene Pool, a Pilot Study.
Indian J Dermatol
January 2023
Department of Microbiology, Central Research Laboratory, Kempegowda Institute of Medical Sciences, Bengaluru, Karnataka, India.
Background: Mutations in the filaggrin (FLG) gene has been reported to be an indicator of poor prognosis of atopic dermatitis (AD). It has been reported that there is a considerable variation in the mutations detected in the FLG gene in different ethnicities.
Aim: To detect the presence of mutations in the FLG gene in pediatric subjects with atopic dermatitis (AD) and to compare the detected mutations with those already reported from different ethnicities.
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