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韩国系统性硬化症患者血管紧张素转换酶基因插入/缺失多态性

Angiotensin-converting enzyme gene insertion/deletion polymorphism in Korean patients with systemic sclerosis.

作者信息

Joung Chung Il, Park Yong Wook, Kim Sook Kyoung, Uhm Wan Sik, Kim Tae Hwan, Yoo Dae Hyun

机构信息

Division of Rheumatology, Department of Internal Medicine, Konyang University Hospital, Daejeon, Korea.

出版信息

J Korean Med Sci. 2006 Apr;21(2):329-32. doi: 10.3346/jkms.2006.21.2.329.

Abstract

To determine whether angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism is associated with the development and clinical features of systemic sclerosis (SSc) in Korean, we studied seventy two Korean patients with SSc fulfilling the ACR preliminary classification criteria. The controls were 114 healthy, disease free Koreans. ACE I/D genotypes were determined by PCR method using oligonucleotides. Sixty eight patients (94.4%) were women and age at diagnosis was 43.5+/-12.6 yr old (mean+/-SD). Thirty nine patients (54.2%) had a diffuse type of SSc. There were no statistical differences in the frequencies of all ACE I/D genotypes and D allele between patients and controls, and neither between diffuse and limited types of SSc. ACE I/D gene polymorphism was not associated with the development of SSc in Korea. The investigation for the pathogenesis of SSc requires more studies about the role of other candidate genes such as endothelin, TGF-beta, nitric oxide, or angiotensin II receptor in addition to the ACE genes.

摘要

为了确定血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性是否与韩国系统性硬化症(SSc)的发生发展及临床特征相关,我们研究了72例符合美国风湿病学会(ACR)初步分类标准的韩国SSc患者。对照组为114名健康、无疾病的韩国人。采用寡核苷酸通过聚合酶链反应(PCR)方法确定ACE I/D基因型。68例患者(94.4%)为女性,诊断时年龄为43.5±12.6岁(均值±标准差)。39例患者(54.2%)为弥漫型SSc。患者与对照组之间以及弥漫型和局限型SSc之间,所有ACE I/D基因型和D等位基因的频率均无统计学差异。在韩国,ACE I/D基因多态性与SSc的发生无关。对于SSc发病机制的研究,除了ACE基因外,还需要更多关于其他候选基因如内皮素、转化生长因子-β、一氧化氮或血管紧张素II受体作用的研究。

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