Analysis of CALCRL, COL11A1 and CYP1B1 gene polymorphisms in patients with primary angle-closure glaucoma using Sanger sequencing

Abstract

Objective: To investigate the distribution of selected polymorphisms in the CALCRL, COL11A1, and CYP1B1 genes among Vietnamese patients with primary angle-closure glaucoma (PACG). Subjects and methods: A cross-sectional descriptive study was conducted involving 101 patients diagnosed with PACG and 102 non-glaucomatous control subjects. Clinical and paraclinical characteristics were collected using a standardised study protocol. Genomic DNA was extracted from peripheral blood samples, followed by polymerase chain reaction (PCR) amplification and Sanger sequencing for polymorphism identification. Statistical analyses were performed using SPSS version 26.0. Results: The mean age was 67.3±7.1 years in the PACG group and 67.6±10.3 years in the control group. Females accounted for 80.2% of PACG patients. Acute PACG represented 76.2% of all cases and was associated with poorer visual acuity, higher intraocular pressure, shallower anterior chamber depth, and shorter axial length compared with chronic PACG (p<0.05). Sanger sequencing identified eight polymorphisms in the CALCRL, COL11A1, and CYP1B1 genes. Two polymorphisms, rs1266621589 (CALCRL) and rs1684478389 (COL11A1), were significantly associated with PACG. Haplotype analysis revealed statiscally signifiacant differences in the frequencies of the CA haplotype of CALCRL and the AACA haplotype of COL11A1 between the patient and control groups. Conclusions: Polymorphisms in the CALCRL, COL11A1, and CYP1B1 genes were identified in Vietnamese patients with PACG, suggesting a potential role of genetic factors in the pathogenesis of the disease.