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首页> 外文期刊>The Journal of investigative dermatology. >Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans
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Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans

机译：罕见的Filaggrin变体与非洲裔美国人的持久性的特征性皮炎有关

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Atopic dermatitis (AD) is a common illness that has been associated with filaggrin gene (FLG) loss of function (LoF) variation. In African Americans, a group that commonly has AD and has not been well studied, FLG LoF variation is rarely found. Our objective was to use massively parallel sequencing to evaluate FLG LoF variation in children of African ancestry to evaluate the association between FLG LoF variation and AD and AD persistence. We studied 262 African American children with AD. Nine unique FLG exon 3 LoF variants were identified for an overall minor variant frequency of 6.30% (95% confidence interval [CI] = 4.37-8.73). The most common variants were p.R501X (1.72%, 95% CI = 0.79-3.24), p.S3316X (1.34%, 95% CI = 0.54-2.73), and p.R826X (0.95%, 95% CI = 0.31-2.2). Over an average follow-up period of 96.4 (95% CI = 92.0-100.8) months, African American children with FLG LoF were less likely to be symptom free (odds ratio = 0.36, 95% CI = 0.14-0.89, P = 0.027) compared with a FLG wild-type child. In contrast to previous reports, uncommon FLG LoF variants in African American children exist and are associated with AD and more persistent AD. In contrast to Europeans, no FLG LoF variants predominate in African American children. Properly determining FLG LoF status requires advanced sequencing techniques.
机译：特应性皮炎（AD）是一种与Filaggrin基因（FLG）失去功能（LOF）变异有关的常见疾病。在非洲裔美国人，一群常见的广告并没有得到很好的研究，很少发现FLG LOF变化。我们的目标是使用大规模平行测序来评估非洲祖先儿童的FLG LOF变化，以评估FLG LOF变异和广告和广告持久性之间的关联。我们研究了262名非洲裔美国儿童广告。九个独特的FLG外显子3局部变体鉴定为6.30％的整体次要变体频率（95％置信区间[CI] = 4.37-8.73）。最常见的变体是p.R501x（1.72％，95％CI = 0.79-3.24），P.S3316x（1.34％，95％CI = 0.54-2.73），P.R826x（0.95％，95％CI = 0.31 -2.2）。在96.4的平均随访时间（95％CI = 92.0-100.8）个月，非洲裔美国患有FLG LOF的儿童不太可能是无症状的（差价率= 0.36,95％CI = 0.14-0.89，P = 0.027 ）与FLG野生型儿童相比。与之前的报告相比，非洲裔美国儿童的罕见FLG LOF变体存在，并与广告和更持久的广告相关。与欧洲人相比，非洲裔美国儿童没有FLG LOF变体占主导地位。正确确定FLG LOF状态需要高级测序技术。

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    Margolis David J.; Mitra Nandita; Gochnauer Heather; Wubbenhorst Bradley; DAndrea Kurt; Kraya Adam; Hoffstad Ole; Gupta Jayanta; Kim Brian; Yan Albert; Fuxench Zelma Chiesa; Nathanson Katherine L.;

  • 作者单位

    Univ Penn Dept Dermatol Perelman Sch Med Philadelphia PA 19104 USA;

    Univ Penn Dept Biostat Epidemiol &

    Informat Perelman Sch Med Philadelphia PA 19104 USA;

    Univ Penn Dept Dermatol Perelman Sch Med Philadelphia PA 19104 USA;

    Univ Penn Perelman Sch Med Dept Med Div Translat Med &

    Human Genet Philadelphia PA 19104 USA;

    Univ Penn Perelman Sch Med Dept Med Div Translat Med &

    Human Genet Philadelphia PA 19104 USA;

    Univ Penn Perelman Sch Med Dept Med Div Translat Med &

    Human Genet Philadelphia PA 19104 USA;

    Univ Penn Dept Biostat Epidemiol &

    Informat Perelman Sch Med Philadelphia PA 19104 USA;

    Florida Gulf Coast Univ Marieb Coll Hlth &

    Human Sci Ft Myers FL USA;

    Washington Univ Sch Med St Louis MO USA;

    Univ Penn Perelman Sch Med Philadelphia PA 19104 USA;

    Univ Penn Dept Biostat Epidemiol &

    Informat Perelman Sch Med Philadelphia PA 19104 USA;

    Univ Penn Perelman Sch Med Dept Med Div Translat Med &

    Human Genet Philadelphia PA 19104 USA;

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  • 正文语种 eng
  • 中图分类 皮肤病学与性病学;
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