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Article: Coding region mutation screening in optineurin in Chinese normal-tension glaucoma patients

TitleCoding region mutation screening in optineurin in Chinese normal-tension glaucoma patients
Authors
Issue Date2019
Citation
Disease Markers, 2019, v. 2019, article no. 5820537 How to Cite?
AbstractPurpose. To study the roles of sequence alterations in the optineurin (OPTN) 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 OPTN 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 OPTN 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 OPTN sequence variants, c.464G>A (T34T) was significantly associated with NTG in both the allelic and genotypic association analyses (allelic association: p = 0 0001, OR = 2 20, 95% CI: 1.46-3.31; genotypic association: p = 0 0001), whereas the association of other variants with NTG did not reach statistical significance (p > 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 OPTN 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.
Persistent Identifierhttp://hdl.handle.net/10722/298314
ISSN
2021 Impact Factor: 3.464
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorHe, Jing Na-
dc.contributor.authorLu, Shiyao-
dc.contributor.authorChen, Li Jia-
dc.contributor.authorTam, Pancy Oi Sin-
dc.contributor.authorZhang, Bi Ning-
dc.contributor.authorLeung, Christopher Kai Shun-
dc.contributor.authorPang, Chi Pui-
dc.contributor.authorTham, Clement Chee Yung-
dc.contributor.authorChu, Wai Kit-
dc.date.accessioned2021-04-08T03:08:08Z-
dc.date.available2021-04-08T03:08:08Z-
dc.date.issued2019-
dc.identifier.citationDisease Markers, 2019, v. 2019, article no. 5820537-
dc.identifier.issn0278-0240-
dc.identifier.urihttp://hdl.handle.net/10722/298314-
dc.description.abstractPurpose. To study the roles of sequence alterations in the optineurin (OPTN) 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 OPTN 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 OPTN 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 OPTN sequence variants, c.464G>A (T34T) was significantly associated with NTG in both the allelic and genotypic association analyses (allelic association: p = 0 0001, OR = 2 20, 95% CI: 1.46-3.31; genotypic association: p = 0 0001), whereas the association of other variants with NTG did not reach statistical significance (p > 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 OPTN 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.-
dc.languageeng-
dc.relation.ispartofDisease Markers-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleCoding region mutation screening in optineurin in Chinese normal-tension glaucoma patients-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1155/2019/5820537-
dc.identifier.pmid31198474-
dc.identifier.pmcidPMC6526575-
dc.identifier.scopuseid_2-s2.0-85068145092-
dc.identifier.volume2019-
dc.identifier.spagearticle no. 5820537-
dc.identifier.epagearticle no. 5820537-
dc.identifier.eissn1875-8630-
dc.identifier.isiWOS:000468452100001-
dc.identifier.issnl0278-0240-

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