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- Atopic dermatitis
- atopic keratoconjunctivitis
- diagnostic tests/investigation
- experimental and laboratory
- gene mutation
- lens and zonules
- ocular surface
- vernal keratoconjunctivitis
- wound healing
Filaggrin gene mutations are predisposing genetic factors for atopic dermatitis (AD).1 In this study, we investigated the association between atopic keratoconjunctivitis (AKC)/vernal keratoconjunctivitis (VKC) and filaggrin gene mutations using a Japanese population. Detailed information on the diagnostic criteria for AKC and VKC was provided elsewhere.2 The mean age of VKC patients was 15.7±8.9 years (7–32 years), that of AKC patients 28.34±9.9 years (6–50 years) and for controls 42.7±24.3 years (23–67 years). The male:female ratios were 3.2:1.0 for VKC, 3.9:1.0 for AKC and 1:1 for controls.
Four common filaggrin gene mutations in the Japanese population (S2554X, S2889X, S3296X, 3321delA)3 were genotyped using DNA samples obtained from 69 cases (AKC 44; VKC 25) enrolled in this study. Ninety-three DNA samples obtained from healthy controls (from Health Science Research Resources Japan, Osaka, Japan) were also …
Funding This study was supported by grants-in-aid from MEXT Japan (nos 21592239 and 24592652 to AMa, and no 24659768 to AMu).
Competing interests None.
Ethics approval Ethics approval was provided by Juntendo University and Kyoto Prefectural University.
Provenance and peer review Not commissioned; internally peer reviewed.