Jianxiao Xing1, Ying Wang1, Xincheng Zhao1, Junqin Li1, Ruixia Hou1, Xuping Niu1, Guohua Yin1, Xinhua Li1, Kaiming Zhang2. 1. Shanxi Key Laboratory of Stem Cell for Immunological Dermatosis, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, 030009, Shanxi Province, People's Republic of China. 2. Shanxi Key Laboratory of Stem Cell for Immunological Dermatosis, Taiyuan Central Hospital, Taiyuan, 030009, Shanxi Province, People's Republic of China.
Abstract
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.
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.
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Authors: V Chandran; C T Schentag; J E Brockbank; F J Pellett; S Shanmugarajah; S M A Toloza; P Rahman; D D Gladman Journal: Ann Rheum Dis Date: 2008-06-04 Impact factor: 19.103
Authors: Thomas Illig; Christian Gieger; Guangju Zhai; Werner Römisch-Margl; Rui Wang-Sattler; Cornelia Prehn; Elisabeth Altmaier; Gabi Kastenmüller; Bernet S Kato; Hans-Werner Mewes; Thomas Meitinger; Martin Hrabé de Angelis; Florian Kronenberg; Nicole Soranzo; H-Erich Wichmann; Tim D Spector; Jerzy Adamski; Karsten Suhre Journal: Nat Genet Date: 2009-12-27 Impact factor: 38.330
Authors: U Hüffmeier; J Lascorz; T Becker; F Schürmeier-Horst; A Magener; A B Ekici; S Endele; C T Thiel; S Thoma-Uszynski; R Mössner; K Reich; W Kurrat; T F Wienker; H Traupe; A Reis Journal: J Med Genet Date: 2009-06-11 Impact factor: 6.318