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瘢痕疙瘩与非糖尿病肾病:相似性及 APOL1-MYH9 单倍型可能为潜在遗传关联

Keloids and non-diabetic kidney disease: similarities and the APOL1-MYH9 haplotype as a possible genetic link.

机构信息

University of Florida College of Medicine, Gainesville, FL, USA.

出版信息

Med Hypotheses. 2013 Nov;81(5):908-10. doi: 10.1016/j.mehy.2013.08.009. Epub 2013 Aug 22.

Abstract

Keloids and non-diabetic kidney disease are both fibrotic processes that disproportionately affect persons of African descent. Despite similarities in these conditions, the authors identified no studies to date investigating a shared genetic etiology. MYH9 and APOL1 are in linkage disequilibrium and have both been associated with non-diabetic kidney disease. MYH9 codes for a non-muscle myosin that is involved in cell adhesion and locomotion and is known to be overexpressed in keloids. Variations in APOL1 confer resistance to subspecies of Trypanosoma brucei, which may explain why otherwise deleterious genetic alterations in this haplotype could have gained prominence. We feel that the pathophysiological and epidemiological overlap between keloids and non-diabetic kidney disease support a common genetic origin and further investigation into keloids and the MYH9-APOL1 haplotype and keloids is warranted. Furthermore, we feel this haplotype might offer insight into thrombosis, stroke and other conditions that disproportionately affect persons of African descent.

摘要

瘢痕疙瘩和非糖尿病肾病都是纤维性疾病, disproportionately 影响非洲裔人群。尽管这些病症有相似之处,但作者迄今未发现任何研究探讨共同的遗传病因。MYH9 和 APOL1 处于连锁不平衡状态,并且都与非糖尿病肾病有关。MYH9 编码一种非肌肉肌球蛋白,参与细胞黏附和运动,已知在瘢痕疙瘩中过度表达。APOL1 的变异赋予了对锥体虫亚种的抗性,这也许可以解释为什么这种单倍型中其他有害的遗传改变能够凸显出来。我们认为瘢痕疙瘩和非糖尿病肾病在病理生理学和流行病学上的重叠支持共同的遗传起源,进一步研究瘢痕疙瘩和 MYH9-APOL1 单倍型以及瘢痕疙瘩是有必要的。此外,我们认为这种单倍型可能为血栓形成、中风和其他 disproportionately 影响非洲裔人群的疾病提供一些见解。

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