Department of Zoology, Quaid-e-Azam Campus, University of the Punjab, Lahore, Pakistan.
Department of Biomedical Engineering Center, Kala Shah Kaku Campus, University of Engineering and Technology, Lahore, Pakistan.
PLoS One. 2018 Apr 9;13(4):e0195157. doi: 10.1371/journal.pone.0195157. eCollection 2018.
Genetic polymorphismsof MYOCalter the myocilin protein,which leads to disruption of thenormal regulation of intraocular pressure (IOP) that ultimately causes glaucoma.Theaim of the present study was to identify the polymorphism in exon 3 of the MYOC gene of theglaucoma patients in Lahore, Pakistan. We conducted a case-control study with 100 patients and 100 controls subjects. We extracted DNA from blood samples,amplified the target DNA fragmentby PCR, and identifiedpolymorphisms through sequencing. We observed that the allelic and genotypic frequencies of rs74315341 and rs879255525 were associated with glaucoma in our patient population. The polymorphism atrs74315341 led to the substitutionof serine for arginine,whereas the polymorphism at rs879255525 led to the substitution ofasparagine for lysine. The haplotype TGAAGCCATTTC was associated with disease onset, whereas the haplotype GGAAGCCATTTC was protective against disease development. In conclusion, weidentified MYOC gene polymorphisms in susceptible regions that were associated withglaucoma onset among the Lahore patient population.This is the first report to identify a novel mutation in rs879255525 in exon 3 of the MYOC genethat is associated withglaucoma.
MYOC 基因的遗传多态性改变了肌球蛋白蛋白，导致眼内压（IOP）的正常调节紊乱，最终导致青光眼。本研究的目的是确定巴基斯坦拉合尔青光眼患者 MYOC 基因外显子 3 的多态性。我们进行了一项病例对照研究，共纳入 100 例患者和 100 例对照。我们从血液样本中提取 DNA，通过 PCR 扩增目标 DNA 片段，并通过测序鉴定多态性。我们观察到，rs74315341 和 rs879255525 的等位基因和基因型频率与我们的患者群体中的青光眼有关。rs74315341 的多态性导致丝氨酸取代精氨酸，而 rs879255525 的多态性导致天冬酰胺取代赖氨酸。TGAAGCCATTTC 单倍型与疾病发作有关，而 GGAAGCCATTTC 单倍型对疾病发展具有保护作用。总之，我们在易感区域鉴定了与拉合尔患者群体中青光眼发作相关的 MYOC 基因突变。这是首次报道在 MYOC 基因外显子 3 中发现与青光眼相关的 rs879255525 新突变。
