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瘢痕疙瘩:遗传易感性及其遗传学和表观遗传学在发病机制中的作用。

Keloid: Genetic susceptibility and contributions of genetics and epigenetics to its pathogenesis.

机构信息

Dermatology Hospital of Southern Medical University, Guangzhou, China.

出版信息

Exp Dermatol. 2022 Nov;31(11):1665-1675. doi: 10.1111/exd.14671. Epub 2022 Sep 11.

DOI:10.1111/exd.14671
PMID:36052657
Abstract

Keloid, characterized by fibroproliferative disorders of the skin, can be developed in people of different genders, ages and ethnicities. Keloid can appear in any part of the body but are especially common on the earlobe, upper torso and triangular muscle. The genetic heterogeneity and susceptibility of KD (keloid) vary among different races and ethnicities. Studies have found that multiple loci on multiple chromosomes are associated with the pathogenesis of KD, and specific gene variants may also be involved. Despite multiple investigations attempting to uncover the aetiology of keloid formation, the genetic mechanism of keloid formation remains unknown. To establish a foundation for a better understanding of the genetics and epigenetics of keloids, we have evaluated and summarized current studies which are mostly related to heredity, genetic polymorphisms, predisposing gene, DNA methylation and non-coding RNA. We also discussed the problems and potential of genetic and epigenetic investigations of keloids, with the goal of developing new therapeutic approaches to enhance the prognosis of keloid patients.

摘要

瘢痕疙瘩是一种皮肤纤维增生性疾病,可发生于不同性别、年龄和种族的人群。瘢痕疙瘩可发生于身体的任何部位,但耳垂、上胸部和三角肌是其常见部位。KD(瘢痕疙瘩)的遗传异质性和易感性在不同种族和民族中存在差异。研究发现,多个染色体上的多个位点与 KD 的发病机制有关,特定的基因变异也可能参与其中。尽管有多项研究试图揭示瘢痕疙瘩形成的病因,但瘢痕疙瘩形成的遗传机制仍不清楚。为了为更好地理解瘢痕疙瘩的遗传学和表观遗传学奠定基础,我们评估和总结了目前主要与遗传、遗传多态性、易感基因、DNA 甲基化和非编码 RNA 相关的研究。我们还讨论了瘢痕疙瘩的遗传和表观遗传学研究的问题和潜力,以期开发新的治疗方法来改善瘢痕疙瘩患者的预后。

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Keloid: Genetic susceptibility and contributions of genetics and epigenetics to its pathogenesis.瘢痕疙瘩:遗传易感性及其遗传学和表观遗传学在发病机制中的作用。
Exp Dermatol. 2022 Nov;31(11):1665-1675. doi: 10.1111/exd.14671. Epub 2022 Sep 11.
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Genome-Wide Scan for Methylation Profiles in Keloids.瘢痕疙瘩甲基化谱的全基因组扫描
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