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Abstract #81280 Published in IGR 20-3
Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients
He JN; He JN; Lu S; Chen LJ; Tam POS; Zhang BN; Leung CKS; Pang CP; Tham CCY; Chu WKDisease markers 2019; 2019: 5820537
PURPOSE: To study the roles of sequence alterations in the optineurin () gene-coding region in normal-tension glaucoma (NTG) among Chinese patients. METHODS: Genomic DNA was extracted from 190 NTG patients and 201 control subjects. The thirteen exons of were amplified by polymerase chain reaction and analyzed by direct sequencing. Detected sequence changes were compared between NTG patients and control subjects. RESULTS: Seven sequence changes in were identified in both NTG patients and control subjects. Among them, c.464G>A (T34 T), c.509C>T (T49T), c.806G>A (V148V), and c.959T>C (P199P) were synonymous codon changes, whilst c.655T>A (M98K), c.1996G>A (R545Q), and c.1582T>C (I407T) were missense changes. Two previously reported heterozygous mutations, c.458G>A (E50K) in exon 4 and c.691_692insAG in exon 6, were not found in this study. Out of these seven sequence variants, c.464G>A (T34T) was significantly associated with NTG in both the allelic and genotypic association analyses (allelic association: = 0.0001, OR = 2.20, 95% CI: 1.46-3.31; genotypic association: = 0.0001), whereas the association of other variants with NTG did not reach statistical significance ( > 0.05). Variants c.1582 T>C (I407T) and c.806G>A (V148V) were identified in one and two NTG patients, respectively, but not in the control subjects. CONCLUSIONS: This study confirmed the association of the OPTN T34T variant with NTG, suggesting that is a susceptibility gene for NTG in Chinese. Moreover, a variant with amino acid change (I407T) was identified in NTG but not in controls. Further studies are warranted to assess whether this variant is a causative mutation for NTG.
Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong.
Full articleClassification:
9.2.4 Normal pressure glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
