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MYOC和OPTN序列变异在西班牙原发性开角型青光眼患者中的作用

Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

作者信息

Lopez-Martinez Francisco, Lopez-Garrido Maria-Pilar, Sanchez-Sanchez Francisco, Campos-Mollo Ezequiel, Coca-Prados Miguel, Escribano Julio

机构信息

Servicio de Oftalmología, Complejo Hospitalario Universitario de Albacete (Hospital Perpetuo Socorro), Albacete, Spain.

出版信息

Mol Vis. 2007 Jun 14;13:862-72.

PMID:17615537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2770203/
Abstract

PURPOSE

To retrospectively investigate the contribution of myocilin (MYOC) and optineurin (OPTN) sequence variations to adult-onset ocular hypertension (OHT) and primary open-angle glaucoma (POAG) in Spanish patients.

METHODS

The promoter region and the three exons of MYOC were analyzed by direct PCR DNA sequencing in 40 OHT and 110 POAG unrelated patients. We used 98 subjects in whom OHT or glaucoma had been ruled out as controls. We also screened the complete coding region of the OPTN gene (exons 4-16) in all subjects by single-stranded conformational polymorphisms (SSCPs).

RESULTS

We identified six common single nucleotide polymorphisms (SNPs) in the promoter region of MYOC (-1000C>G, -387C>T, -306G>A, -224T>C, -126T>C and -83G>A) and a polymorphic GT microsatellite (-339(GT)11-19). In addition, we detected four novel, rare DNA polymorphisms. None of these DNA sequence variations were associated with either OHT or POAG. We also found three (2.7%) POAG patients with MYOC pathogenic mutations. Two of these pathogenic mutations (Gln368Stop and Ala445Val) were previously described whereas the third (Tyr479His) was novel. Transient expression of the novel mutation in 293T cells supported its pathogenicity. Only two OPTN polymorphisms, which are not associated with the disease, were detected.

CONCLUSIONS

Overall, our data show that in Spain a minority of adult-onset high-pressure POAG patients carry heterozygous disease-causing mutations in the MYOC gene and that OPTN is not involved in either OHT or POAG.

摘要

目的

回顾性研究在西班牙患者中，肌纤蛋白（MYOC）和视紫质（OPTN）序列变异对成人型高眼压症（OHT）和原发性开角型青光眼（POAG）的影响。

方法

采用直接PCR DNA测序法，对40例OHT患者和110例POAG患者（均无血缘关系）的MYOC启动子区域及3个外显子进行分析。选取98例排除OHT或青光眼的受试者作为对照。同时，通过单链构象多态性（SSCP）对所有受试者的OPTN基因完整编码区（外显子4 - 16）进行筛查。

结果

在MYOC启动子区域鉴定出6个常见单核苷酸多态性（SNP）（-1000C>G、-387C>T、-306G>A、-224T>C、-126T>C和-83G>A）以及一个多态性GT微卫星（-339(GT)11 - 19）。此外，还检测到4个新的罕见DNA多态性。这些DNA序列变异均与OHT或POAG无关。还发现3例（2.7%）POAG患者存在MYOC致病突变。其中2种致病突变（Gln368Stop和Ala445Val）先前已有报道，第3种（Tyr479His）为新发现的突变。该新突变在293T细胞中的瞬时表达证实了其致病性。仅检测到2种与疾病无关的OPTN多态性。

结论

总体而言，我们的数据表明，在西班牙，少数成人型高压POAG患者在MYOC基因中携带杂合致病突变，而OPTN与OHT或POAG均无关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/410bef831cf2/mv-v13-862-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/f138de959ab5/mv-v13-862-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/5f77d8c7dc6b/mv-v13-862-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/0d8f430e954d/mv-v13-862-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/da6f76a8fbb0/mv-v13-862-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/410bef831cf2/mv-v13-862-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/f138de959ab5/mv-v13-862-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/5f77d8c7dc6b/mv-v13-862-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/0d8f430e954d/mv-v13-862-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/da6f76a8fbb0/mv-v13-862-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/717c/2770203/410bef831cf2/mv-v13-862-f5.jpg

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Mol Cell Biol. 2006 Nov;26(22):8427-36. doi: 10.1128/MCB.01127-06. Epub 2006 Sep 5.
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OPTN gene: profile of patients with glaucoma from India.眼库协会（OPTN）基因：来自印度的青光眼患者概况。
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Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.西班牙原发性开角型青光眼患者的 CYP1B1 基因杂合突变
Int J Ophthalmol. 2020 Sep 18;13(9):1356-1360. doi: 10.18240/ijo.2020.09.03. eCollection 2020.
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Primary Open Angle Glaucoma and Vascular Risk Factors: A Review of Population Based Studies from 1990 to 2019.原发性开角型青光眼与血管危险因素：1990年至2019年基于人群研究的综述
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Identification of myocilin as a blood plasma protein and analysis of its role in leukocyte adhesion to endothelial cell monolayers.鉴定肌球蛋白作为一种血浆蛋白，并分析其在白细胞黏附于血管内皮细胞单层中的作用。
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