Tahir Mohammad, Sharma S K, Ashraf Shazia, Mishra Hemant K
Division of Pulmonary, Critical Care and Sleep Medicine, Department of Medicine, All India Institute of Medical Sciences, New Delhi, India.
Sarcoidosis Vasc Diffuse Lung Dis. 2007 Sep;24(2):106-12.
Studies of serum angiotensin converting enzyme (SACE) activity and its association with ACE gene insertion/deletion (I/D) polymorphism in relation to sarcoidosis have yielded variable results. This has been attributed to possible ethnic differences. Present study was designed to evaluate the relationship between I/D polymorphism and susceptibility to develop sarcoidosis and its effect on SACE activity and disease course in Asian Indian patients with sarcoidosis.
ACE genotyping was performed in 72 consecutive patients with sarcoidosis and 199 controls (96 normal healthy individuals and 103 tuberculosis patients taken as disease controls). SACE activity was determined in all patients with sarcoidosis. Various parameters were compared amongst patients with different genotypes as well as between sarcoidosis and control groups.
Gene frequency of I and D in control group was 0.6 and 0.4, whereas in patients with sarcoidosis it was 0.35 and 0.65 respectively (p < 0.001). For individuals with D allele (DD&ID genotypes), odds ratios for developing sarcoidosis were 9.0 (95% CI: 3.4; 23.7) and 5.5 (95% CI: 2.2; 13.6) respectively considering individuals with II genotype as reference. Mean SACE activity was highest in patients with DD genotype and followed an order of DD > ID > II. Good response to initial corticosteroids was seen in 6 of 6 (100%) patients with II genotype whereas in only 32 of 37 (84%) with ID and 16 of 25 (64%) with DD (p = 0.013).
In Asian Indian population 'D' allele is associated with an increased risk for development of sarcoidosis and patients with 'D' allele show poor response to corticosteroids.
关于血清血管紧张素转换酶（SACE）活性及其与结节病相关的ACE基因插入/缺失（I/D）多态性之间关系的研究结果各异。这被归因于可能存在的种族差异。本研究旨在评估I/D多态性与亚洲印度结节病患者发生结节病的易感性之间的关系，及其对SACE活性和疾病进程的影响。
对72例连续的结节病患者和199例对照者（96例正常健康个体和103例肺结核患者作为疾病对照）进行ACE基因分型。测定所有结节病患者的SACE活性。比较不同基因型患者之间以及结节病患者与对照组之间的各项参数。
对照组中I和D的基因频率分别为0.6和0.4，而结节病患者中分别为0.35和0.65（p<0.001）。对于携带D等位基因（DD和ID基因型）的个体，以II基因型个体为参照，发生结节病的比值比分别为9.0（95%CI：3.4；23.7）和5.5（95%CI：2.2；13.6）。DD基因型患者的平均SACE活性最高，顺序为DD>ID>II。II基因型的6例患者（100%）对初始皮质类固醇治疗反应良好，而ID基因型的37例患者中只有32例（84%），DD基因型的25例患者中只有16例（64%）反应良好（p=0.013）。
在亚洲印度人群中，“D”等位基因与结节病发生风险增加相关，携带“D”等位基因的患者对皮质类固醇治疗反应较差。
