Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy
To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD). This was a prospective cohort study. A total of 51 patients with newly diagnosed FECD were recruited and followed-up over a period of 12 years, from November 2004...
Gespeichert in:
| Veröffentlicht in: | PloS one 2019-01, Vol.14 (1), p.e0210996-e0210996 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | e0210996 |
|---|---|
| container_issue | 1 |
| container_start_page | e0210996 |
| container_title | PloS one |
| container_volume | 14 |
| creator | Soh, Yu Qiang Peh Swee Lim, Gary Htoon, Hla Myint Gong, Xin Mootha, V Vinod Vithana, Eranga Nishanthie Kocaba, Viridiana Mehta, Jodhbir Singh |
| description | To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD).
This was a prospective cohort study. A total of 51 patients with newly diagnosed FECD were recruited and followed-up over a period of 12 years, from November 2004 to April 2016. Baseline clinical measurements included central corneal thickness (CCT), endothelial cell density (ECD) and CTG18.1 TNR expansion length from peripheral leukocytes, with yearly repeat measurements of CCT and ECD. A patient was defined to have experienced significant clinical progression and to have developed Threshold Disease if any of these criteria were fulfilled in either eye: a) CCT increased to >700μm, b) ECD decreased to |
| doi_str_mv | 10.1371/journal.pone.0210996 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_plos_</sourceid><recordid>TN_cdi_plos_journals_2171190347</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A571057310</galeid><doaj_id>oai_doaj_org_article_8334fb9a2de848b1970020aa2b35e312</doaj_id><sourcerecordid>A571057310</sourcerecordid><originalsourceid>FETCH-LOGICAL-c692t-2d0bfc891b740496d92d04162a0b599caa19ab1661e324f3ec2570894b6f94413</originalsourceid><addsrcrecordid>eNqNk99v0zAQxyMEYmPwHyCIhMSPhxb_ihO_IE1lg0mTJsHg1XIcp3Hl2pntoPa_x22zqUF7QH6wdfe5r33nuyx7DcEc4hJ-XrnBW2HmvbNqDhAEjNEn2SlkGM0oAvjp0fkkexHCCoACV5Q-z04woBWCpDrNNrde20Ea5aJuVO5Vr0TM1aYXNmhnc6PsMna5CLnIe68aLaPzuWvz2KlcGm21FCZ53NKrsI9IvstBduFDfmEblzCjE7Fw3qq0f92G6F3fbV9mz1phgno17mfZr8uL28X32fXNt6vF-fVMUobiDDWgbmXFYF0SQBhtWLIQSJEAdcGYFAIyUUNKocKItFhJVJSgYqSmLSME4rPs7UG3Ny7wsWiBI1hCyAAmZSKuDkTjxIr3Xq-F33InNN8bnF9y4aNONeIVxqStmUCNqkhVQ1YCgIAQqMaFwhAlrS_jbUO9Vo1UNnphJqJTj9UdX7o_nKaXQFokgY-jgHd3gwqRr3WQyhhhlRv272YpfVhUCX33D_p4diO1FCkBbVuX7pU7UX5elBAUJYYgUfNHqLQatdYydVirk30S8GkSkJioNnEphhD41c8f_8_e_J6y74_YLrVM7IIzQ0ytFaYgOYDSuxC8ah-KDAHfDch9NfhuQPg4ICnszfEHPQTdTwT-C-ZWCtA</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2171190347</pqid></control><display><type>article</type><title>Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy</title><source>MEDLINE</source><source>DOAJ Directory of Open Access Journals</source><source>Public Library of Science (PLoS) Journals Open Access</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Free Full-Text Journals in Chemistry</source><creator>Soh, Yu Qiang ; Peh Swee Lim, Gary ; Htoon, Hla Myint ; Gong, Xin ; Mootha, V Vinod ; Vithana, Eranga Nishanthie ; Kocaba, Viridiana ; Mehta, Jodhbir Singh</creator><contributor>Lewin, Alfred S.</contributor><creatorcontrib>Soh, Yu Qiang ; Peh Swee Lim, Gary ; Htoon, Hla Myint ; Gong, Xin ; Mootha, V Vinod ; Vithana, Eranga Nishanthie ; Kocaba, Viridiana ; Mehta, Jodhbir Singh ; Lewin, Alfred S.</creatorcontrib><description>To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD).
This was a prospective cohort study. A total of 51 patients with newly diagnosed FECD were recruited and followed-up over a period of 12 years, from November 2004 to April 2016. Baseline clinical measurements included central corneal thickness (CCT), endothelial cell density (ECD) and CTG18.1 TNR expansion length from peripheral leukocytes, with yearly repeat measurements of CCT and ECD. A patient was defined to have experienced significant clinical progression and to have developed Threshold Disease if any of these criteria were fulfilled in either eye: a) CCT increased to >700μm, b) ECD decreased to <700 cells/mm2, or c) underwent keratoplasty for treatment of FECD.
Patients were categorized as having at least one allele whose maximum allele length was equal to or greater than 40 repeats (L≥40, n = 22, 43.1%), or having both alleles shorter than 40 repeats (L<40). Threshold Disease rates at the 5-year time point were 87.5% for the L≥40 group and 47.8% for the L<40 group (p = 0.012). This difference narrowed and was no longer statistically significant at the 8-years (92.9% vs 78.9%, p = 0.278) and 10-years (92.9% vs 84.2%, p = 0.426) time points.
L≥40 patients are at greater risk of FECD progression and development of Threshold Disease within the first 5 years following diagnosis.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0210996</identifier><identifier>PMID: 30682148</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Aged ; Alleles ; Automation ; Biology and Life Sciences ; Cell density ; Chromosomes, Human, Pair 18 - genetics ; Cohort Studies ; Cornea ; Corneal diseases ; Corneal dystrophy ; Corneal Pachymetry ; Corneal transplantation ; Development and progression ; Disease Progression ; Dystrophy ; Edema ; Endothelial cells ; Endothelial Cells - pathology ; Expansion ; Female ; Fuchs' Endothelial Dystrophy - genetics ; Fuchs' Endothelial Dystrophy - pathology ; Genes ; Genetic aspects ; Genetics ; Humans ; Leukocytes ; Male ; Medical schools ; Medicine and Health Sciences ; Middle Aged ; Mutation ; Pathogenesis ; Patients ; Prognosis ; Prospective Studies ; Risk factors ; Social Sciences ; Statistical analysis ; Stem cells ; Studies ; Tissue engineering ; Transcription Factor 4 - genetics ; Transcription factors ; Trinucleotide Repeat Expansion ; Trinucleotide repeats</subject><ispartof>PloS one, 2019-01, Vol.14 (1), p.e0210996-e0210996</ispartof><rights>COPYRIGHT 2019 Public Library of Science</rights><rights>2019 Soh et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2019 Soh et al 2019 Soh et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-2d0bfc891b740496d92d04162a0b599caa19ab1661e324f3ec2570894b6f94413</citedby><cites>FETCH-LOGICAL-c692t-2d0bfc891b740496d92d04162a0b599caa19ab1661e324f3ec2570894b6f94413</cites><orcidid>0000-0001-9428-8401 ; 0000-0002-3044-5057</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347165/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347165/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,728,781,785,865,886,2103,2929,23871,27929,27930,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30682148$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Lewin, Alfred S.</contributor><creatorcontrib>Soh, Yu Qiang</creatorcontrib><creatorcontrib>Peh Swee Lim, Gary</creatorcontrib><creatorcontrib>Htoon, Hla Myint</creatorcontrib><creatorcontrib>Gong, Xin</creatorcontrib><creatorcontrib>Mootha, V Vinod</creatorcontrib><creatorcontrib>Vithana, Eranga Nishanthie</creatorcontrib><creatorcontrib>Kocaba, Viridiana</creatorcontrib><creatorcontrib>Mehta, Jodhbir Singh</creatorcontrib><title>Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD).
This was a prospective cohort study. A total of 51 patients with newly diagnosed FECD were recruited and followed-up over a period of 12 years, from November 2004 to April 2016. Baseline clinical measurements included central corneal thickness (CCT), endothelial cell density (ECD) and CTG18.1 TNR expansion length from peripheral leukocytes, with yearly repeat measurements of CCT and ECD. A patient was defined to have experienced significant clinical progression and to have developed Threshold Disease if any of these criteria were fulfilled in either eye: a) CCT increased to >700μm, b) ECD decreased to <700 cells/mm2, or c) underwent keratoplasty for treatment of FECD.
Patients were categorized as having at least one allele whose maximum allele length was equal to or greater than 40 repeats (L≥40, n = 22, 43.1%), or having both alleles shorter than 40 repeats (L<40). Threshold Disease rates at the 5-year time point were 87.5% for the L≥40 group and 47.8% for the L<40 group (p = 0.012). This difference narrowed and was no longer statistically significant at the 8-years (92.9% vs 78.9%, p = 0.278) and 10-years (92.9% vs 84.2%, p = 0.426) time points.
L≥40 patients are at greater risk of FECD progression and development of Threshold Disease within the first 5 years following diagnosis.</description><subject>Aged</subject><subject>Alleles</subject><subject>Automation</subject><subject>Biology and Life Sciences</subject><subject>Cell density</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Cohort Studies</subject><subject>Cornea</subject><subject>Corneal diseases</subject><subject>Corneal dystrophy</subject><subject>Corneal Pachymetry</subject><subject>Corneal transplantation</subject><subject>Development and progression</subject><subject>Disease Progression</subject><subject>Dystrophy</subject><subject>Edema</subject><subject>Endothelial cells</subject><subject>Endothelial Cells - pathology</subject><subject>Expansion</subject><subject>Female</subject><subject>Fuchs' Endothelial Dystrophy - genetics</subject><subject>Fuchs' Endothelial Dystrophy - pathology</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetics</subject><subject>Humans</subject><subject>Leukocytes</subject><subject>Male</subject><subject>Medical schools</subject><subject>Medicine and Health Sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Prognosis</subject><subject>Prospective Studies</subject><subject>Risk factors</subject><subject>Social Sciences</subject><subject>Statistical analysis</subject><subject>Stem cells</subject><subject>Studies</subject><subject>Tissue engineering</subject><subject>Transcription Factor 4 - genetics</subject><subject>Transcription factors</subject><subject>Trinucleotide Repeat Expansion</subject><subject>Trinucleotide repeats</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNk99v0zAQxyMEYmPwHyCIhMSPhxb_ihO_IE1lg0mTJsHg1XIcp3Hl2pntoPa_x22zqUF7QH6wdfe5r33nuyx7DcEc4hJ-XrnBW2HmvbNqDhAEjNEn2SlkGM0oAvjp0fkkexHCCoACV5Q-z04woBWCpDrNNrde20Ea5aJuVO5Vr0TM1aYXNmhnc6PsMna5CLnIe68aLaPzuWvz2KlcGm21FCZ53NKrsI9IvstBduFDfmEblzCjE7Fw3qq0f92G6F3fbV9mz1phgno17mfZr8uL28X32fXNt6vF-fVMUobiDDWgbmXFYF0SQBhtWLIQSJEAdcGYFAIyUUNKocKItFhJVJSgYqSmLSME4rPs7UG3Ny7wsWiBI1hCyAAmZSKuDkTjxIr3Xq-F33InNN8bnF9y4aNONeIVxqStmUCNqkhVQ1YCgIAQqMaFwhAlrS_jbUO9Vo1UNnphJqJTj9UdX7o_nKaXQFokgY-jgHd3gwqRr3WQyhhhlRv272YpfVhUCX33D_p4diO1FCkBbVuX7pU7UX5elBAUJYYgUfNHqLQatdYydVirk30S8GkSkJioNnEphhD41c8f_8_e_J6y74_YLrVM7IIzQ0ytFaYgOYDSuxC8ah-KDAHfDch9NfhuQPg4ICnszfEHPQTdTwT-C-ZWCtA</recordid><startdate>20190125</startdate><enddate>20190125</enddate><creator>Soh, Yu Qiang</creator><creator>Peh Swee Lim, Gary</creator><creator>Htoon, Hla Myint</creator><creator>Gong, Xin</creator><creator>Mootha, V Vinod</creator><creator>Vithana, Eranga Nishanthie</creator><creator>Kocaba, Viridiana</creator><creator>Mehta, Jodhbir Singh</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-9428-8401</orcidid><orcidid>https://orcid.org/0000-0002-3044-5057</orcidid></search><sort><creationdate>20190125</creationdate><title>Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy</title><author>Soh, Yu Qiang ; Peh Swee Lim, Gary ; Htoon, Hla Myint ; Gong, Xin ; Mootha, V Vinod ; Vithana, Eranga Nishanthie ; Kocaba, Viridiana ; Mehta, Jodhbir Singh</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-2d0bfc891b740496d92d04162a0b599caa19ab1661e324f3ec2570894b6f94413</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Aged</topic><topic>Alleles</topic><topic>Automation</topic><topic>Biology and Life Sciences</topic><topic>Cell density</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Cohort Studies</topic><topic>Cornea</topic><topic>Corneal diseases</topic><topic>Corneal dystrophy</topic><topic>Corneal Pachymetry</topic><topic>Corneal transplantation</topic><topic>Development and progression</topic><topic>Disease Progression</topic><topic>Dystrophy</topic><topic>Edema</topic><topic>Endothelial cells</topic><topic>Endothelial Cells - pathology</topic><topic>Expansion</topic><topic>Female</topic><topic>Fuchs' Endothelial Dystrophy - genetics</topic><topic>Fuchs' Endothelial Dystrophy - pathology</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetics</topic><topic>Humans</topic><topic>Leukocytes</topic><topic>Male</topic><topic>Medical schools</topic><topic>Medicine and Health Sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Prognosis</topic><topic>Prospective Studies</topic><topic>Risk factors</topic><topic>Social Sciences</topic><topic>Statistical analysis</topic><topic>Stem cells</topic><topic>Studies</topic><topic>Tissue engineering</topic><topic>Transcription Factor 4 - genetics</topic><topic>Transcription factors</topic><topic>Trinucleotide Repeat Expansion</topic><topic>Trinucleotide repeats</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Soh, Yu Qiang</creatorcontrib><creatorcontrib>Peh Swee Lim, Gary</creatorcontrib><creatorcontrib>Htoon, Hla Myint</creatorcontrib><creatorcontrib>Gong, Xin</creatorcontrib><creatorcontrib>Mootha, V Vinod</creatorcontrib><creatorcontrib>Vithana, Eranga Nishanthie</creatorcontrib><creatorcontrib>Kocaba, Viridiana</creatorcontrib><creatorcontrib>Mehta, Jodhbir Singh</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection (ProQuest)</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agricultural Science Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials Science Collection</collection><collection>Access via ProQuest (Open Access)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Soh, Yu Qiang</au><au>Peh Swee Lim, Gary</au><au>Htoon, Hla Myint</au><au>Gong, Xin</au><au>Mootha, V Vinod</au><au>Vithana, Eranga Nishanthie</au><au>Kocaba, Viridiana</au><au>Mehta, Jodhbir Singh</au><au>Lewin, Alfred S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2019-01-25</date><risdate>2019</risdate><volume>14</volume><issue>1</issue><spage>e0210996</spage><epage>e0210996</epage><pages>e0210996-e0210996</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD).
This was a prospective cohort study. A total of 51 patients with newly diagnosed FECD were recruited and followed-up over a period of 12 years, from November 2004 to April 2016. Baseline clinical measurements included central corneal thickness (CCT), endothelial cell density (ECD) and CTG18.1 TNR expansion length from peripheral leukocytes, with yearly repeat measurements of CCT and ECD. A patient was defined to have experienced significant clinical progression and to have developed Threshold Disease if any of these criteria were fulfilled in either eye: a) CCT increased to >700μm, b) ECD decreased to <700 cells/mm2, or c) underwent keratoplasty for treatment of FECD.
Patients were categorized as having at least one allele whose maximum allele length was equal to or greater than 40 repeats (L≥40, n = 22, 43.1%), or having both alleles shorter than 40 repeats (L<40). Threshold Disease rates at the 5-year time point were 87.5% for the L≥40 group and 47.8% for the L<40 group (p = 0.012). This difference narrowed and was no longer statistically significant at the 8-years (92.9% vs 78.9%, p = 0.278) and 10-years (92.9% vs 84.2%, p = 0.426) time points.
L≥40 patients are at greater risk of FECD progression and development of Threshold Disease within the first 5 years following diagnosis.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>30682148</pmid><doi>10.1371/journal.pone.0210996</doi><tpages>e0210996</tpages><orcidid>https://orcid.org/0000-0001-9428-8401</orcidid><orcidid>https://orcid.org/0000-0002-3044-5057</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2019-01, Vol.14 (1), p.e0210996-e0210996 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2171190347 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS) Journals Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Aged Alleles Automation Biology and Life Sciences Cell density Chromosomes, Human, Pair 18 - genetics Cohort Studies Cornea Corneal diseases Corneal dystrophy Corneal Pachymetry Corneal transplantation Development and progression Disease Progression Dystrophy Edema Endothelial cells Endothelial Cells - pathology Expansion Female Fuchs' Endothelial Dystrophy - genetics Fuchs' Endothelial Dystrophy - pathology Genes Genetic aspects Genetics Humans Leukocytes Male Medical schools Medicine and Health Sciences Middle Aged Mutation Pathogenesis Patients Prognosis Prospective Studies Risk factors Social Sciences Statistical analysis Stem cells Studies Tissue engineering Transcription Factor 4 - genetics Transcription factors Trinucleotide Repeat Expansion Trinucleotide repeats |
| title | Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-13T03%3A21%3A01IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Trinucleotide%20repeat%20expansion%20length%20as%20a%20predictor%20of%20the%20clinical%20progression%20of%20Fuchs'%20Endothelial%20Corneal%20Dystrophy&rft.jtitle=PloS%20one&rft.au=Soh,%20Yu%20Qiang&rft.date=2019-01-25&rft.volume=14&rft.issue=1&rft.spage=e0210996&rft.epage=e0210996&rft.pages=e0210996-e0210996&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0210996&rft_dat=%3Cgale_plos_%3EA571057310%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2171190347&rft_id=info:pmid/30682148&rft_galeid=A571057310&rft_doaj_id=oai_doaj_org_article_8334fb9a2de848b1970020aa2b35e312&rfr_iscdi=true |