■青光眼视神经损伤是由视网膜神经节细胞(RGC)的选择性死亡引起的。具有潜在的RGC损失的另一种病症是常染色体显性视神经萎缩(ADOA)。大多数ADOA患者在OPA1中具有突变,OPA1是负责线粒体融合最终步骤的基因。两种疾病之间的临床相似性使参与线粒体融合的基因成为青光眼基因的良好候选者。在这项研究中,在波兰人群中,我们调查了选定的OPA1,MFN1和MFN2多态性是否与青光眼相关.
■四个OPA1(rs166850,rs10451941,rs7624750,rs9851685),一个MFN1(rs2111534),并在304例原发性开角型青光眼患者中研究了两个MFN2(rs873458,rs2295281)单核苷酸多态性(204例正常眼压性青光眼,100名患有高眼压青光眼)和258名对照受试者使用RT-PCR方法。
■青光眼患者和对照组之间rs9851685和rs2111534多态性的基因型频率存在显着差异。包含OPA1和MFN1SNP的几种基因型组合在对照之间的三向比较中分布显着不同。NTG患者和HTG患者。所研究的MFN2多态性均未与HTG或NTG显着相关。
■在研究人群中,rs9851685OPA1多态性的基因型CC和等位基因C是NTG的危险因素,而该多态性的TT基因型和T等位基因是针对NTG的保护因子。rs2111534MFN1多态性的基因型GA是HTG的危险因素,而该多态性的AA基因型是针对HTG的保护因素。几种OPA1和MFN2基因型组合与该人群中青光眼风险增加或降低显著相关。
UNASSIGNED: Glaucomatous optic nerve damage is caused by selective death of retinal ganglion cells (RGCs). Another condition with underlying loss of RGCs is autosomal dominant optic atrophy (ADOA). Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical resemblance between the two diseases make genes involved in mitochondrial fusion good candidates as glaucoma genes. In this study, we investigated if selected polymorphisms of OPA1, MFN1, and MFN2 were associated with glaucoma in Polish population.
UNASSIGNED: Four OPA1 (rs166850, rs10451941, rs7624750, rs9851685), one MFN1 (rs2111534), and two MFN2 (rs873458, rs2295281) single nucleotide polymorphisms were investigated in 304 primary open angle glaucoma patients (204 with normal tension glaucoma, 100 with high-tension glaucoma) and 258 control subjects using RT-PCR method.
UNASSIGNED: There was a significant difference in genotype frequencies of rs9851685 and rs2111534 polymorphisms between glaucoma patients and control subjects. Several genotype combinations comprising SNPs at OPA1 and MFN1 were significantly differently distributed in a three-way comparison between controls, patients with NTG and patients with HTG. None of the studied MFN2 polymorphisms was significantly associated with HTG or NTG.
UNASSIGNED: In studied population, genotype CC and allele C of rs9851685 OPA1 polymorphism are NTG risk factors, whereas TT genotype and T allele of this polymorphism are protective factors against NTG. Genotype GA of rs2111534 MFN1 polymorphism is an HTG risk factor and AA genotype of this polymorphism is a protective factor against HTG. Several OPA1 and MFN2 genotype combinations are significantly associated with either increased or decreased risk of glaucoma in this population.