دورية أكاديمية
Summary of single nucleotide polymorphisms in filaggrin associated with atopic dermatitis
| العنوان: | Summary of single nucleotide polymorphisms in filaggrin associated with atopic dermatitis |
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| المؤلفون: | Rachita Pandya, Mohsen Baghchechi, Sinead Langan, David J. Margolis, Lavinia Paternoster, Cathryn Sibbald, Joy Wan, Saman Zaman, Katrina Abuabara |
| المصدر: | JEADV Clinical Practice, Vol 3, Iss 2, Pp 629-640 (2024) |
| بيانات النشر: | Wiley, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Dermatology LCC:Diseases of the genitourinary system. Urology |
| مصطلحات موضوعية: | atopic dermatitis, eczema, epidemiology, filaggrin, single‐nucleotide polymorphism, Dermatology, RL1-803, Diseases of the genitourinary system. Urology, RC870-923 |
| الوصف: | Abstract Background Loss of function mutations in the filaggrin gene (FLG) play an important role in the pathogenesis of atopic dermatitis (AD). However, FLG is structurally challenging to sequence using conventional high‐throughput techniques. Genome‐wide association studies (GWAS) chips and imputation panels are also not designed to detect most of these mutations. Furthermore, bioinformatics tools have variable sensitivity for identification of loss of function variants. Targeted sequencing is often performed for AD but requires a comprehensive list of potential variants. Objectives This study sought to compile all published FLG single nucleotide polymorphisms (SNPs) in AD and characterize the methods for assessing the associated phenotype. Methods We searched nine electronic databases for studies that reported measures of association between FLG and AD. Data regarding FLG SNPs and participant demographics were extracted. The identified SNPs were compared to those available in the National Human Genome Research Institute‐European Bioinformatics Institute (NHGRI‐EBI) GWAS Catalogue and the 1000Genomes reference panel. Results We identified 168 SNPs in FLG that have been associated with AD, with the most studied being R501X, 2282del4, R2447X, 3321delA, S3247X and p.S2554 in European and Asian ancestries. A total of 153 of these SNPs are not available from GWAS studies, and 78 are not included in the 1000Genomes reference panel. Conclusions Because FLG is a complex gene, current GWAS chips do not capture most of the polymorphisms that have been associated with AD. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2768-6566 |
| Relation: | https://doaj.org/toc/2768-6566 |
| DOI: | 10.1002/jvc2.330 |
| URL الوصول: | https://doaj.org/article/9770bed91abc4f45a7d22f6bc2b7dd3f |
| رقم الأكسشن: | edsdoj.9770bed91abc4f45a7d22f6bc2b7dd3f |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 27686566 |
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| DOI: | 10.1002/jvc2.330 |