A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma

作者：Nazir Sabeen; Mukhtar Maryam; Shahnawaz Maryam; Farooqi Shaima; Fatima Naz; Mehmood Rabia; Sheikh Nadeem^*

来源：PLos One, 2018, 13(4): e0195157.

DOI：10.1371/journal.pone.0195157

Genetic polymorphisms of MYOCalter the myocilin protein,which leads to disruption of the normal regulation of intraocular pressure (IOP) that ultimately causes glaucoma. The aim of the present study was to identify the polymorphism in exon 3 of the MYOC gene of the glaucoma 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 fragment by PCR, and identified polymorphisms 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 substitution of serine for arginine,whereas the polymorphism at rs879255525 led to the substitution of asparagine for lysine. The haplotype TGAAGCCATTTC was associated with disease onset, whereas the haplotype GGAAGCCATTTC was protective against disease development. In conclusion, we identified MYOC gene polymorphisms in susceptible regions that were associated with glaucoma onset among the Lahore patient population. This is the first report to identify a novel mutation in rs879255525 in exon 3 of the MYOC gene that is associated with glaucoma.

• 出版日期2018-4-9