Fernandez Kerstin, Asad Samina, Taylan Fulya, Wahlgren Carl-Fredrik, Bilcha Kassahun D, Nordenskjöld Magnus, Winge Mårten C G, Bradley Maria
Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Pediatr Dermatol. 2017 May;34(3):e140-e141. doi: 10.1111/pde.13095. Epub 2017 Mar 10.
Genetic variants in filaggrin (FLG) involving truncating mutations or intragenic copy number variation are strongly associated with the risk of developing atopic dermatitis (AD) in European and Asian populations. Few loss-of-function mutations have been identified in Africans, although an association between FLG copy number variation and AD severity in a small African American cohort has been proposed. We studied the association between FLG copy number and AD in 132 Ethiopians and found no association between AD severity and FLG copy number, suggesting that other, still unidentified genetic factors are of more importance in predisposing Ethiopians to AD.
在欧洲和亚洲人群中，丝状聚合蛋白（FLG）基因变异涉及截短突变或基因内拷贝数变异，与患特应性皮炎（AD）的风险密切相关。在非洲人中，几乎未发现功能丧失突变，尽管在一个小的非裔美国人群队列中有人提出FLG拷贝数变异与AD严重程度之间存在关联。我们研究了132名埃塞俄比亚人的FLG拷贝数与AD之间的关联，发现AD严重程度与FLG拷贝数之间无关联，这表明其他尚未明确的遗传因素在埃塞俄比亚人患AD的易感性中更为重要。
