Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

被引：113

作者：

Chen, H. ^{[1
,2
,3
,4
]}

Common, J. E. A. ^{[1
]}

Haines, R. L. ^{[1
]}

Balakrishnan, A. ^{[1
]}

Brown, S. J. ^{[2
,3
,4
]}

Goh, C. S. M. ^{[1
]}

Cordell, H. J. ^{[5
]}

Sandilands, A. ^{[2
,3
,4
]}

Campbell, L. E. ^{[2
,3
,4
]}

Kroboth, K. ^{[2
,3
,4
]}

Irvine, A. D. ^{[6
,7
]}

Goh, D. L. M. ^{[8
]}

Tang, M. B. Y. ^{[9
]}

van Bever, H. P. ^{[8
,9
]}

Giam, Y. C. ^{[9
]}

McLean, W. H. I. ^{[2
,3
,4
]}

Lane, E. B. ^{[1
]}

机构：

[1] Inst Med Biol, Singapore 138648, Singapore

[2] Univ Dundee, Epithelial Genet Grp, Inst Med Sci, Coll Life Sci & Med, Dundee, Scotland

[3] Univ Dundee, Epithelial Genet Grp, Inst Med Sci, Coll Dent, Dundee, Scotland

[4] Univ Dundee, Epithelial Genet Grp, Inst Med Sci, Coll Nursing, Dundee, Scotland

[5] Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[6] Our Ladys Childrens Hosp, Dept Paediat Dermatol, Dublin, Ireland

[7] Trinity Coll Dublin, Div Mol Med, Dublin, Ireland

[8] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Paediat, Singapore 117595, Singapore

[9] Natl Skin Ctr, Singapore 1130, Singapore

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2011年 / 165卷 / 01期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

OF-FUNCTION MUTATIONS; CAUSE ICHTHYOSIS VULGARIS; RECURRENT MUTATIONS; EPIDERMAL BARRIER; JAPANESE PATIENTS; STRATUM-CORNEUM; RARE MUTATIONS; FLG MUTATIONS; HAY-FEVER; GENE;

D O I：

10.1111/j.1365-2133.2011.10331.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Background Null mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris (IV) and predispose to atopic dermatitis (AD). Cohort studies in Europe and Japan have reported an FLG mutation carrier frequency of between 14% and 56%, but the prevalent European FLG mutations are rare or absent in Chinese patients with IV and AD. Objectives To investigate further the spectrum of FLG-null mutations in Chinese patients and to compare it with that in other populations. Methods We conducted comprehensive FLG genetic analysis in a discovery cohort of 92 Singaporean Chinese individuals with IV and/or moderate-to-severe AD. All detected FLG mutations were then screened in a cohort of 425 patients with AD and 440 normal controls. Results In total, 22 FLG-null mutations, of which 14 are novel, were identified in this study; the combined null FLG genotype of 17 mutations detected in cases and controls showed strong association with AD [Fisher's exact test; P = 5.3 x 10(-9); odds ratio (OR) 3.3], palmar hyperlinearity (Fisher's exact test; P = 9.0 x 10(-15); OR 5.8), keratosis pilaris (Fisher's exact test; P = 0.001; OR 4.7) and with increased severity of AD (permutation test; P = 0.0063). Conclusions This study emphasizes the wider genetic landscape of FLG-null mutations in Asia that is slowly emerging.

引用

页码：106 / 114

页数：9

共 45 条

[1] FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics [J].