Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis

Pediatric Dermatology

Volumn 31, Issue 4, 2014, Pages 489-492

  Polcari, Ingrid ^a   Becker, Lauren ^b   Stein, Sarah L ^c   Smith, Marilyn S ^d   Paller, Amy S ^b  

^a UNIVERSITY OF MINNESOTA   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

^d Viracor IBT Laboratories   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; GENOMIC DNA; INTERMEDIATE FILAMENT PROTEIN;

AFRICAN AMERICAN; ARTICLE; ATOPIC DERMATITIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; ICHTHYOSIS VULGARIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ADOLESCENT; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION;

ADOLESCENT; AFRICAN AMERICANS; CHILD; DERMATITIS, ATOPIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; MALE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 84904575030     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12355     Document Type: Article

References (16)

1. Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38: 441-446.
2. Irvine AD, McLean WH, Leung DY,. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med 2011; 365: 1315-1327.
3. Margolis DJ, Apter AJ, Gupta J, et al. The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol 2012; 130: 912-917.
4. Zhang H, Guo Y, Wang W, et al. Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. Allergy 2011; 66: 420-427.
5. Nomura T, Akiyama M, Sandilands A, et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008; 128: 1436-1441. (Pubitemid 351693195)
6. Cascella R, Foti Cuzzola V, Lepre T, et al. Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association. J Invest Dermatol 2011; 131: 982-984.
7. Chen H, Common JE, Haines RL, et al. Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. Br J Dermatol 2011; 165: 106-114.
8. Howell MD, Kim BE, Gao P, et al. Cytokine modulation of atopic dermatitis filaggrin skin expression. J Allergy Clin Immunol 2007; 120: 150-155. (Pubitemid 46990506)
9. Gao PS, Rafaels NM, Hand T, et al. Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum. J Allergy Clin Immunol 2009; 124: 507-513.
10. Winge MC, Bilcha KD, Lieden A, et al. Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. Br J Dermatol 2011; 165: 1074-1080.
11. National Human Genome Research Institute and National Center for Biotechnology Information. dbSNP database [online]. Available at http://www.ncbi.nlm.nih.gov/snp. Accessed on January 15, 2014.
12. Li M, Cheng R, Shi M, et al. Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. Br J Dermatol 2013; 168: 1335-1338.
13. Liu P, Zhang S, Yao Q, et al. Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. Hum Genet 2008; 123: 507-513.
14. Wu Z, Hansmann B, Meyer-Hoffert U, et al. Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family. PLoS One 2009; 4: e5227.
15. Hsu CY, Henry J, Raymond AA, et al. Deimination of human filaggrin-2 promotes its proteolysis by calpain 1. J Biolog Chem 2011; 286: 23222-23233.
16. Margolis DJ, Gupta J, Apter AJ, et al. Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects. J Allergy Clin Immunol 2014; 133: 784-789.