No Association of filaggrin copy number variation and atopic dermatitis risk in White and Black Americans.
No Association of filaggrin copy number variation and atopic dermatitis risk in White and Black Americans.
复制标题
美国白人和黑人中丝聚蛋白拷贝数变异与特应性皮炎风险之间没有关联。
DOI：
10.1111/exd.14449
复制
发表时间：
2022
影响因子：
3.6
通讯作者：
Common,JohnE
中科院分区：
文献类型：
--
作者：
Fulton,RachelL;Margolis,DavidJ;Sockler,PatrickG;Mitra,Nandita;Wong,XuanFeiColinCornelius;Common,JohnE
特应性皮炎（AD）是一种慢性炎症性皮肤病，具有多因素的病理生理学。聚丝蛋白基因（FLG）特别涉及该基因中的功能丧失（LoF）突变导致皮肤屏障功能障碍，并且此类突变可增加患者发展AD的可能性。FLG具有基因内拷贝数变异（CNV），其影响产生的聚丝蛋白的总量。先前的研究报告了剂量依赖性效应，例如随着FLG量的增加，AD的风险降低。为了获得更好的理解，我们在一项大型病例对照研究中对有和没有AD的白人和黑人进行了FLGCNV评估。我们研究的目的是确定FLGCNV是否对AD的风险具有剂量依赖性影响，并确定FLGCNV是否因种族而异。在AD患者中，不同种族或种族的CNV的频率和比值比没有显著差异。人们认为FLGCNV可能因种族而异，并代表了黑人AD受试者与AD的重要关联。然而，我们的研究表明，虽然CNV存在种族差异，但这些差异似乎不能解释AD风险。
Atopic dermatitis (AD) is a chronic, inflammatory skin condition with a multifactorial pathophysiology. The filaggrin gene (FLG) has particularly been implicated given loss of function (LoF) mutations in this gene lead to skin barrier dysfunction and such mutations can increase a patient's likelihood of developing AD.FLGhas intragenic copy number variation (CNV), which impacts the total amount of filaggrin produced. Previous research reported a dose‐dependent effect such that as amount of FLG increases, risk of AD decreases. To gain a better understanding, we evaluatedFLGCNV in a large case‐control study of Whites and Blacks with and without AD. The goal of our study was to determine whetherFLGCNV has a dose‐dependent effect on the risk of developing AD and to determine whetherFLGCNV varies by race. The frequencies and odds ratios comparing a given CNV by race or race within those with AD did not significantly vary. It had been thought thatFLGCNV might vary by race and represent an important association with AD in Black AD subjects. However, our work suggests that while there are racial differences with respect to CNV, these differences do not appear to explain AD risk.