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已发表论文

PRKCE 和 KLC1 变异,I 型银屑病的潜在调节因子

 

Authors Xing J, Wang Y, Zhao X, Li J, Hou R, Niu X, Yin G, Li X, Zhang K 

Received 21 April 2022

Accepted for publication 15 June 2022

Published 1 July 2022 Volume 2022:15 Pages 1237—1245

DOI https://doi.org/10.2147/CCID.S371719

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Jeffrey Weinberg

Purpose: Psoriasis is a multifactorial disease with a complex genetic predisposition. The pathophysiology of psoriasis is associated with genetic variants. To better characterize gene variants in psoriasis and identify the relationship between clinical characteristics and variant genes in its pathogenesis.
Patients and Methods: DNA was extracted and purified from eight pairs of monozygotic twins with psoriasis discordance and 282 type I psoriasis patients. Thirteen variable genes were amplified and sequenced using the Sanger method after whole genome sequencing.
Results: Thirteen genes were found to be variable in eight pairs of monozygotic twins with psoriasis discordance. Among the 13 genes, the variant frequencies of protein kinase C epsilon (PRKCE) (c.240T>C, 35.9% vs 47.7%, P < 0.05) and kinesin light chain 1 (KLC1) (c.216A>G, 2.9% vs 98.1%, P< 0.01) were significantly lower in psoriasis than in normal Asian individuals. Additionally, we found considerable differences in the relationship between variants in genes CADM2 JPH2 SPTLC3 and clinical characteristics stratified by medical history and family history. Moreover, the variants in MEGF6 (39.52% vs 22.50%, χ 2=3.83, p < 0.05) showed a stronger association with the mild group (PASI ≤ 10) than the heavy group.
Conclusion: Our results provide a comprehensive correlation analysis of regulatory genes that are regulated in psoriasis. This integrated analysis offers novel insight into the pathogenic mechanisms involved in psoriasis.
Keywords: psoriasis, gene variants, PRKCE, KLC1