在巴西患者中，视神经元基因变体T34T、E50K、M98K、691_692insAG和R545Q与原发性开角型青光眼之间无关联。

Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.

作者信息

Caixeta-Umbelino Cristiano, de Vasconcellos José Paulo Cabral, Costa Vital Paulino, Kasahara Niro, Della Paolera Maurício, de Almeida Geraldo Vicente, Cohen Ralph, Mandia Carmo, Rocha Mylene Neves, Richeti Flávio, Longui Carlos Alberto, de Melo Mônica Barbosa

机构信息

Department of Ophthalmology, Faculty of Medical Sciences, Glaucoma Service, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil.

出版信息

Ophthalmic Genet. 2009 Mar;30(1):13-8. doi: 10.1080/13816810802502970.

DOI:10.1080/13816810802502970

PMID:19172505

Abstract

PURPOSE

To verify the frequencies of T34T, E50K, M98K, 691_692insAG, and R545Q variants in the optineurin (OPTN) gene in Brazilian subjects with primary open-angle glaucoma (POAG) and controls.

PATIENTS AND METHODS

Ninety-nine patients with POAG and 100 normal controls were enrolled in this study. The frequency of alterations in the OPTN gene was analyzed by direct sequencing and enzymatic digestion of PCR products.

RESULTS

None of the five alterations evaluated was significantly associated with POAG when compared to controls. However, the T34T silent change was present in greater frequency in POAG patients (37.37% vs. 23.00% in controls), while the R545Q change was more prevalent in controls (23.00% vs. 10.10% in POAG). The M98K and 691_692insAG presented with low frequencies in POAG patients (1.01% and 2.02%, respectively) and controls (2.00% and 2.00%, respectively). The E50K substitution was not observed.

CONCLUSION

Our data show no association between the five evaluated variants and POAG in the Brazilian population.

摘要

目的

验证巴西原发性开角型青光眼（POAG）患者和对照组中视神经病蛋白（OPTN）基因的T34T、E50K、M98K、691_692insAG和R545Q变异的频率。

患者与方法

本研究纳入了99例POAG患者和100例正常对照。通过对PCR产物进行直接测序和酶切分析OPTN基因的变异频率。

结果

与对照组相比，所评估的5种变异均与POAG无显著相关性。然而，T34T沉默变异在POAG患者中的出现频率更高（37.37% 对比对照组中的23.00%），而R545Q变异在对照组中更为普遍（23.00% 对比POAG中的10.10%）。M98K和691_692insAG在POAG患者（分别为1.01%和2.02%）和对照组（分别为2.00%和2.00%）中的频率较低。未观察到E50K替代。