Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects.
Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects.
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DOI：
10.1016/j.jaci.2013.09.015
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发表时间：
2014-03
影响因子：
14.2
通讯作者：
Mitra, Nandita
中科院分区：
文献类型：
--
作者：
Margolis, David J.;Gupta, Jayanta;Apter, Andrea J.;Ganguly, Tapan;Hoffstad, Ole;Papadopoulos, Maryte;Rebbeck, Tim R.;Mitra, Nandita
Atopic dermatitis (AD) is a common skin disease that is characterized by recurrent episodes of itching. Genetic variation associated with the persistence of AD has not been described for African-Americans. To evaluate genetic variation of Filaggrin-2 (FLG2) in African-Americans with AD. We evaluated a multiyear prospective cohort study of African-American children with AD with respect to FLG2 variation based on whole exome sequencing followed by a targeted analysis. We ultimately evaluated the association of rs rs12568784 and rs16833974 with the respect to the persistence of AD symptoms over time. Whole exome analysis was conducted on 60 subjects revealing premature stop codon in exon 3 at S2377X (rs12568784), X2392S (rs150529054), and a large exon 3 deletion mutation Q2053del224. Based on a priori criteria we then studied rs12568784, rs16833974 (H1249R) and Q2053del224. We noted that S2377X (OR = 0.44; 95% CI: 0.25, 0.46) and H1249R (0.23; 0.12, 0.46) were significantly less likely to be free of symptoms of AD and Q2053del224 (0.54; 0.16, 1.80) trended toward this outcome. S2377X and H1249R were in high linkage disequilibrium (D′=0.95). In an African-American cohort with AD, FLG2 mutations were associated with more persistent AD. This is the first finding of genetic variation of a skin barrier protein in those of African ancestry with AD. FLG2 variation is associated with more persistent AD in children of African ancestry.
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影响因子：
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作者：
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通讯作者：
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通讯作者：
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