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首页> 美国卫生研究院文献>Thorax >Deletion polymorphism in the angiotensin I converting enzyme (ACE) gene as a genetic risk factor for sarcoidosis.
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Deletion polymorphism in the angiotensin I converting enzyme (ACE) gene as a genetic risk factor for sarcoidosis.

机译：血管紧张素I转换酶（ACE）基因中的缺失多态性是结节病的遗传危险因素。

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BACKGROUND: Genetic control of serum angiotensin I converting enzyme (SACE) levels has been suggested. A study was undertaken to elucidate the role of this polymorphism in sarcoidosis. METHODS: Three hundred and forty one unrelated healthy controls and 103 consecutive patients with sarcoidosis participated in the study. SACE levels and an insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene were studied in each subject and new reference intervals for SACE activity for each genotype were determined. The difference in genotype and allele frequencies between controls and patients was analysed and odds ratios were calculated to estimate the relative risk. RESULTS: A significant association was seen between ACE gene polymorphism and SACE levels in both patients and controls. The new reference intervals for each genotype discriminated abnormal SACE levels in patients more accurately, especially those with genotype II. In women the frequencies of allele I were 0.68 (allele D 0.32) in controls and 0.58 (allele D 0.42) in patients, and the difference between the two female groups was significant (p < 0.05). Thus, an excess of genotype ID or DD was observed in female patients (odds ratio 2.18; 95% confidence interval 1.18 to 4.01; p = 0.01). CONCLUSIONS: These findings suggest that ACE gene polymorphism is associated with SACE levels in both patients with sarcoidosis and controls. ACE gene polymorphism should be further evaluated as a candidate marker for an increased risk of sarcoidosis.
机译：背景：已经提出了对血清血管紧张素I转化酶（SACE）水平的遗传控制。进行了一项研究，以阐明这种多态性在结节病中的作用。方法：341名无关健康对照者和103例结节病患者参加了这项研究。在每个受试者中研究了ACE基因的内含子16中的SACE水平和插入/缺失（I / D）多态性，并确定了每种基因型SACE活性的新参考区间。分析了对照组和患者之间基因型和等位基因频率的差异，并计算了比值比以估计相对风险。结果：在患者和对照组中，ACE基因多态性与SACE水平之间均存在显着相关性。每个基因型的新参考间隔可以更准确地区分患者（尤其是具有基因型II的患者）中的SACE异常水平。在女性中，对照组中等位基因I的频率为0.68（等位基因D 0.32），患者中等位基因I的频率为0.58（等位基因D 0.42），两组女性之间的差异显着（p <0.05）。因此，在女性患者中观察到过量的基因型ID或DD（优势比2.18； 95％置信区间1.18至4.01； p = 0.01）。结论：这些发现表明结节病患者和对照组的ACE基因多态性与SACE水平有关。 ACE基因多态性应进一步评估为结节病风险增加的候选标记。

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