Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis

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• 作者：Teruhiko Makino ; Akari Nagasaki ; Megumi Furuichi ; Kotaro Matsui ; Hirokazu Watanabe ; Daisuke Sawamura ; Hiroshi Shimizu ; Tadamichi Shimizu
• 关键词：Multiple cutaneous and uterine leiomymatosis (MCUL) ; Fumarate hydratase (FH) gene
• 刊名：Journal of Dermatological Science
• 出版年：2007
• 期刊代码：153_09231811
• 类别：med
• 出版时间：November 2007
• 卷：48
• 期：2
• 页码：151-153
• 文件大小：447 K

摘要

Psoriasis is association with an overexpression of T-helper cell type 1(Th1) cytokines and relative underexpression of Th2 cytokines. The cytokine production is under genetic control, and certain allelic variants of cytokine genes are associated with higher or lower cytokine production in vitro and in vivo.

Objectives

We aimed to evaluate association of cytokine genes polymorphisms with psoriasis in the Korean population.

Methods

We investigated the polymorphisms of IL-2 −330, IL-4 −590, IL-4 receptor +1902, IL-10 −1082 and −819, and IFN-γ intron 1 in 114 psoriasis patients and 281 healthy normal controls in Korean.

Results

IL-2 −330*G and IL-4 −590*C alleles significantly increased in psoriasis patients, especially late-onset group, compared to the control. The combined effect of IL-2 −330*G and IL-4 −590*C showed that the positive combination of IL-2 −330*G and IL-4 −590*C alleles were more significantly associated with the late-onset group of psoriasis patients than the controls.

Conclusions

These results suggest that the genetic polymorphisms of IL-2 and IL-4 genes can be susceptible to psoriasis in Korean, especially late-onset psoriasis group.