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和中的罕见变异与埃塞俄比亚人群的特应性皮炎相关。

Uncommon Variants in and Are Associated with Atopic Dermatitis in the Ethiopian Population.

作者信息

Wang Sailan, Elmgren Julia K, Eisfeldt Jesper, Asad Samina, Ek Marlene, Bilcha Kassahun, Befekadu Annisa, Wahlgren Carl-Fredrik, Nordenskjöld Magnus, Taylan Fulya, Tapia-Paez Isabel, Bradley Maria

机构信息

Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

出版信息

JID Innov. 2024 Apr 29;4(4):100284. doi: 10.1016/j.xjidi.2024.100284. eCollection 2024 Jul.

DOI:10.1016/j.xjidi.2024.100284
PMID:38859976
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11163169/
Abstract

Loss-of-function variants in the gene have been identified as the strongest cause of susceptibility to atopic dermatitis (AD) in Europeans and Asians. However, very little is known about the genetic etiology behind AD in African populations, where the prevalence of AD is notably high. We sought to investigate the genetic origins of AD by performing whole-genome sequencing in an Ethiopian family with 12 individuals and several affected in different generations. We identified 2 variants within (p.D13Y) and (p.A918S) genes cosegregating with AD in the affected individuals. Further genotyping analyses in both Ethiopian and Swedish AD cases and controls revealed a significant association with the variant (p.D13Y, < .0013) only in the Ethiopian cohort. However, the variant (p.A918S) did not show any association in our Ethiopian cohort. Instead, 2 previously recognized variants (p.A849V, < .0085 and p.G908R, < .0036) were significantly associated with AD in our Ethiopian cohort. Our study indicates that the and genes might be important in the etiology of AD in Ethiopians. Additional genetic and functional studies are needed to confirm the role of these genes and the associated variants into the development of AD.

摘要

该基因的功能丧失变异已被确定为欧洲人和亚洲人患特应性皮炎（AD）易感性的最主要原因。然而，对于AD在非洲人群中的遗传病因却知之甚少，而非洲人群中AD的患病率显著较高。我们试图通过对一个有12名成员且几代人中有多名患者的埃塞俄比亚家庭进行全基因组测序，来研究AD的遗传起源。我们在患病个体中发现了位于 基因（p.D13Y）和 基因（p.A918S）内的2个与AD共分离的变异。在埃塞俄比亚和瑞典的AD病例及对照中进行的进一步基因分型分析显示，仅在埃塞俄比亚队列中， 变异（p.D13Y， <.0013）与AD存在显著关联。然而， 变异（p.A918S）在我们的埃塞俄比亚队列中未显示出任何关联。相反，2个先前已确认的 变异（p.A849V， <.0085和p.G908R， <.0036）在我们的埃塞俄比亚队列中与AD显著相关。我们的研究表明， 基因和 基因可能在埃塞俄比亚人AD的病因学中起重要作用。需要进一步的遗传和功能研究来证实这些基因及其相关变异在AD发生发展中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/f75b0a9329e9/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/2fd7f5e5b5a2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/4f312383e3e1/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/627ad8b1b413/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/f75b0a9329e9/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/2fd7f5e5b5a2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/4f312383e3e1/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/627ad8b1b413/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b2/11163169/f75b0a9329e9/gr4.jpg

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Accurate proteome-wide missense variant effect prediction with AlphaMissense.使用 AlphaMissense 进行精确的全蛋白质错义变异效应预测。
Science. 2023 Sep 22;381(6664):eadg7492. doi: 10.1126/science.adg7492.
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Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.FLG2 和 TCHHL1 中的罕见变异与美国大型纵向队列中特应性皮炎的缓解相关。
Arch Dermatol Res. 2022 Dec;314(10):953-959. doi: 10.1007/s00403-021-02319-7. Epub 2022 Jan 4.
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Exp Dermatol. 2018 Apr;27(4):340-357. doi: 10.1111/exd.13514.
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SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.瑞典基因组计划（SweGen）：瑞典人群横断面遗传变异的全基因组数据资源。
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