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荷兰和日本结节病患者的糜蛋白酶基因(CMA1)多态性

Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients.

作者信息

Kruit Adrian, Grutters Jan C, Ruven Henk J T, Sato Hiroe, Izumi Takateru, Nagai Sonoko, Welsh Kenneth I, du Bois Roland M, van den Bosch Jules M M

机构信息

Department of Pulmonology, Heart Lung Centre Utrecht, St. Antonius Hospital, Nieuwegein, The Netherlands.

出版信息

Respiration. 2006;73(5):623-33. doi: 10.1159/000091190. Epub 2006 Jan 27.

Abstract

BACKGROUND

Chymase is released from mast cells following activation. Evidence suggests that chymase plays an important role in tissue injury and remodeling of the lungs, heart and skin.

OBJECTIVE

We postulated that chymase gene (CMA1) polymorphisms are associated with pulmonary fibrosis in Dutch and with cardiac and skin involvement in Japanese sarcoidosis patients.

PATIENTS AND METHODS

Dutch (n = 153) and Japanese (n = 122) sarcoidosis patients with controls (Dutch, n = 309; Japanese, n = 111) were studied. Pulmonary involvement in Dutch patients as well as clinical manifestations in Japanese patients was evaluated for association with five CMA1 polymorphisms.

RESULTS

The CMA1 polymorphisms were not associated with disease susceptibility in either population, or with radiographic evolution in the Dutch or with cardiac or skin involvement in the Japanese patients. The -526 T allele was associated with a lower iVC in Dutch patients.

CONCLUSIONS

The CMA1 polymorphisms studied do not contribute to disease susceptibility in Japanese or Dutch sarcoidosis patients. CMA1 polymorphisms do not influence radiographic evolution in Dutch sarcoidosis patients, nor do they predispose to cardiac or skin involvement in Japanese patients. However, the association between CMA1 -526 C/T and iVC in the Dutch patients suggests that chymase may modify the functional outcome of pulmonary sarcoidosis.

摘要

背景

糜蛋白酶在激活后从肥大细胞中释放。有证据表明,糜蛋白酶在肺、心脏和皮肤的组织损伤及重塑中起重要作用。

目的

我们推测,糜蛋白酶基因(CMA1)多态性与荷兰人的肺纤维化以及日本结节病患者的心脏和皮肤受累有关。

患者和方法

对荷兰(n = 153)和日本(n = 122)结节病患者及其对照组(荷兰,n = 309;日本,n = 111)进行了研究。评估了荷兰患者的肺部受累情况以及日本患者的临床表现与五种CMA1多态性的相关性。

结果

CMA1多态性与这两个人群中的疾病易感性均无关,与荷兰患者的影像学进展无关,也与日本患者的心脏或皮肤受累无关。-526 T等位基因与荷兰患者较低的用力肺活量相关。

结论

所研究的CMA1多态性对日本或荷兰结节病患者的疾病易感性无影响。CMA1多态性不影响荷兰结节病患者的影像学进展,也不会使日本患者易患心脏或皮肤受累。然而,荷兰患者中CMA1 -526 C/T与用力肺活量之间的关联表明,糜蛋白酶可能会改变肺结节病的功能结局。

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