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血管紧张素转换酶基因和内皮型一氧化氮合酶基因多态性与伴或不伴眼部受累的白塞病的关系。

Angiotensin-converting enzyme gene and endothelial nitric oxide synthase gene polymorphisms in Behçet's disease with or without ocular involvement.

机构信息

Department of Medical Genetics, Medical Faculty Zonguldak, Zonguldak Karaelmas University, 67600 Zonguldak, Turkey.

出版信息

Inflamm Res. 2009 Jul;58(7):401-5. doi: 10.1007/s00011-009-0005-y. Epub 2009 Mar 3.

DOI:10.1007/s00011-009-0005-y
PMID:19255721
Abstract

PURPOSE

The association of known ACE gene and eNOS gene polymorphisms with BD in a group of Turkish patients with or without ocular involvement has been investigated.

METHODS

The ACE and eNOS gene polymorphisms were investigated in 73 BD patients and 90 controls.

RESULTS

The distrubition of "DD", "ID" and "II" genotypes of the ACE gene were 32 (43.8%), 29 (39.8%) and 12 (16.4%) for BD patients and 32 (35.5%), 35 (38.9%) and 23 (25.6%) for healthy controls. There was no significant difference between the groups (p = 0.140, OR 1.44, CI 0.90-2.30). When Behçet patients with ocular involvement were compared to the control group, statistical significance was found (p = 0.049, OR 2.18, CI 1.00-4.81). The "bb", "ba", and "aa" genotype frequencies of the eNOS gene were 48 (65.8%), 23 (31.5%), and 2 (2.7%) for patients with BD and 75 (83.3%), 15 (16.7%), and 0 (0%) for healthy controls, respectively. The significant difference found in allelic frequencies between the two groups (p = 0.011, OR 2.32, CI 1.11-4.87). When Behçet patients with ocular involvement were compared, sharper statistical significance was found (p = 0.001,OR 4.61,CI 1.85-11.52).

DISCUSSION

The ACE gene polymorphism does not play a role in the pathogenesis of BD. The findings of the eNOS gene polymorphisms confirmed the significant association with BD and even more in patients with ocular involvement.

摘要

目的

研究已知 ACE 基因和 eNOS 基因多态性与土耳其伴或不伴眼部受累的 BD 患者的相关性。

方法

研究了 73 例 BD 患者和 90 例对照者 ACE 基因和 eNOS 基因多态性。

结果

BD 患者 ACE 基因“DD”、“ID”和“II”基因型的分布分别为 32(43.8%)、29(39.8%)和 12(16.4%),健康对照者分别为 32(35.5%)、35(38.9%)和 23(25.6%)。两组间无显著性差异(p=0.140,OR 1.44,CI 0.90-2.30)。当比较有眼部受累的 Behcet 患者与对照组时,发现有统计学意义(p=0.049,OR 2.18,CI 1.00-4.81)。eNOS 基因“bb”、“ba”和“aa”基因型频率分别为 48(65.8%)、23(31.5%)和 2(2.7%)BD 患者和 75(83.3%)、15(16.7%)和 0(0%)健康对照者。两组间等位基因频率有显著性差异(p=0.011,OR 2.32,CI 1.11-4.87)。当比较有眼部受累的 Behcet 患者时,发现有更显著的统计学意义(p=0.001,OR 4.61,CI 1.85-11.52)。

讨论

ACE 基因多态性在 BD 的发病机制中不起作用。eNOS 基因多态性的发现证实了与 BD 的显著相关性,在有眼部受累的患者中更为明显。

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