Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
Pseudoexfoliation (PEX) is a multifactorial age-related disease involving deposition of extracellular proteinaceous aggregates on anterior ocular tissues. The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. Thirteen tag single-nucle...
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| Veröffentlicht in: | Bioscience reports 2023-03, Vol.43 (3), p.1 |
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| description | Pseudoexfoliation (PEX) is a multifactorial age-related disease involving deposition of extracellular proteinaceous aggregates on anterior ocular tissues. The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. Thirteen tag single-nucleotide polymorphisms (SNPs) in FBLN5 were genotyped using TaqMan SNP genotyping technology to identify association between SNPs of FBLN5 and PEX in an Indian cohort comprising 200 control and 273 PEX patients (169 PEXS and 104 PEXG). Functional analysis of risk variants was done through luciferase reporter assays and electrophoretic mobility shift assay (EMSA) using human lens epithelial cells. Genetic association and risk haplotype analysis showed a significant association of rs17732466:G>A (NC_000014.9:g.91913280G>A) and rs72705342:C>T (NC_000014.9:g.91890855C>T) within FBLN5 as risk factors with the advanced severe stage of the disease, pseudoexfoliation glaucoma (PEXG). Reporter assays showed allele-specific regulatory effect of rs72705342:C>T on gene expression, wherein, construct containing the risk allele showed a significant decrease in the reporter activity compared with the one with protective allele. EMSA further validated higher binding affinity of the risk variant to nuclear protein. In silico analysis predicted binding sites for two transcription factors, GR-α and TFII-I with risk allele at rs72705342:C>T, which were lost in the presence of protective allele. The EMSA showed probable binding of both these proteins to rs72705342. In conclusion, the present study identified the novel association of two genetic variants in FBLN5 with PEXG but not with PEXS, distinguishing between the early and the later forms of PEX. Further, rs72705342:C>T was found to be a functional variant. |
| doi_str_mv | 10.1042/BSR20221622 |
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The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. Thirteen tag single-nucleotide polymorphisms (SNPs) in FBLN5 were genotyped using TaqMan SNP genotyping technology to identify association between SNPs of FBLN5 and PEX in an Indian cohort comprising 200 control and 273 PEX patients (169 PEXS and 104 PEXG). Functional analysis of risk variants was done through luciferase reporter assays and electrophoretic mobility shift assay (EMSA) using human lens epithelial cells. Genetic association and risk haplotype analysis showed a significant association of rs17732466:G>A (NC_000014.9:g.91913280G>A) and rs72705342:C>T (NC_000014.9:g.91890855C>T) within FBLN5 as risk factors with the advanced severe stage of the disease, pseudoexfoliation glaucoma (PEXG). Reporter assays showed allele-specific regulatory effect of rs72705342:C>T on gene expression, wherein, construct containing the risk allele showed a significant decrease in the reporter activity compared with the one with protective allele. EMSA further validated higher binding affinity of the risk variant to nuclear protein. In silico analysis predicted binding sites for two transcription factors, GR-α and TFII-I with risk allele at rs72705342:C>T, which were lost in the presence of protective allele. The EMSA showed probable binding of both these proteins to rs72705342. In conclusion, the present study identified the novel association of two genetic variants in FBLN5 with PEXG but not with PEXS, distinguishing between the early and the later forms of PEX. Further, rs72705342:C>T was found to be a functional variant.</description><identifier>ISSN: 0144-8463</identifier><identifier>EISSN: 1573-4935</identifier><identifier>DOI: 10.1042/BSR20221622</identifier><identifier>PMID: 36794549</identifier><language>eng</language><publisher>England: Portland Press Ltd The Biochemical Society</publisher><subject>Age ; Age related diseases ; Alleles ; Assaying ; Binding sites ; Cataracts ; Cloning ; Diagnostics & Biomarkers ; Electrophoretic mobility ; Epithelial cells ; Epithelium ; Exfoliation Syndrome - genetics ; Experiments ; Extracellular Matrix Proteins - genetics ; Functional analysis ; Gene expression ; Gene Expression & Regulation ; Genetic diversity ; Genetic Predisposition to Disease ; Genetic testing ; Genetic variance ; Genotyping ; Glaucoma ; Glaucoma - genetics ; Haplotypes ; Humans ; Macular degeneration ; Molecular Bases of Health & Disease ; Mutation ; Nucleotides ; Polymorphism, Single Nucleotide ; Proteins ; Risk analysis ; Risk factors ; Single-nucleotide polymorphism ; Software ; Transcription factors</subject><ispartof>Bioscience reports, 2023-03, Vol.43 (3), p.1</ispartof><rights>2023 The Author(s).</rights><rights>2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). 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The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. Thirteen tag single-nucleotide polymorphisms (SNPs) in FBLN5 were genotyped using TaqMan SNP genotyping technology to identify association between SNPs of FBLN5 and PEX in an Indian cohort comprising 200 control and 273 PEX patients (169 PEXS and 104 PEXG). Functional analysis of risk variants was done through luciferase reporter assays and electrophoretic mobility shift assay (EMSA) using human lens epithelial cells. Genetic association and risk haplotype analysis showed a significant association of rs17732466:G>A (NC_000014.9:g.91913280G>A) and rs72705342:C>T (NC_000014.9:g.91890855C>T) within FBLN5 as risk factors with the advanced severe stage of the disease, pseudoexfoliation glaucoma (PEXG). Reporter assays showed allele-specific regulatory effect of rs72705342:C>T on gene expression, wherein, construct containing the risk allele showed a significant decrease in the reporter activity compared with the one with protective allele. EMSA further validated higher binding affinity of the risk variant to nuclear protein. In silico analysis predicted binding sites for two transcription factors, GR-α and TFII-I with risk allele at rs72705342:C>T, which were lost in the presence of protective allele. The EMSA showed probable binding of both these proteins to rs72705342. In conclusion, the present study identified the novel association of two genetic variants in FBLN5 with PEXG but not with PEXS, distinguishing between the early and the later forms of PEX. Further, rs72705342:C>T was found to be a functional variant.</description><subject>Age</subject><subject>Age related diseases</subject><subject>Alleles</subject><subject>Assaying</subject><subject>Binding sites</subject><subject>Cataracts</subject><subject>Cloning</subject><subject>Diagnostics & Biomarkers</subject><subject>Electrophoretic mobility</subject><subject>Epithelial cells</subject><subject>Epithelium</subject><subject>Exfoliation Syndrome - genetics</subject><subject>Experiments</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Functional analysis</subject><subject>Gene expression</subject><subject>Gene Expression & Regulation</subject><subject>Genetic diversity</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic testing</subject><subject>Genetic variance</subject><subject>Genotyping</subject><subject>Glaucoma</subject><subject>Glaucoma - genetics</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Macular degeneration</subject><subject>Molecular Bases of Health & Disease</subject><subject>Mutation</subject><subject>Nucleotides</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Risk analysis</subject><subject>Risk factors</subject><subject>Single-nucleotide polymorphism</subject><subject>Software</subject><subject>Transcription factors</subject><issn>0144-8463</issn><issn>1573-4935</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9ks1rFTEUxYMo9rW6ci8BN5UymsnXTDYFW9oqPBS0-5BJ7vSlzCRjkqm-v6H_dKf0gyro6sI5Pw73cC9Cb2ryoSacfjz68Z0SSmtJ6TO0qkXDKq6YeI5WpOa8arlkO2g350tCyGLwl2iHyUZxwdUKXZ9BgOItvjLJm1AyNsHhjZmGWLYTZOwD7n03Dz5UAu-fHq2_ivfYJMAm52i9KeDwL182eMowuwi_-zgsqo8BXwxmtnE0uJsLDrH8i8vb4FIc4RV60Zshw-v7uYfOT0_Ojz9X629nX44_rSvLqCgVI4KylhNpAWjT2x6cMG1nGRdLw84K6WQjGLhFIzXrKEgHtBV966wlju2hw7vYae5GcBZCSWbQU_KjSVsdjdd_OsFv9EW80kopIVq5BOzfB6T4c4Zc9OizhWEwAeKcNW2ahhNW01v03V_oZZxTWNppRphSsqUt-R9FFeWE1krShTq4o2yKOSfoH1euib79BP3kExb67dOWj-zD6dkNpUCwtw</recordid><startdate>20230331</startdate><enddate>20230331</enddate><creator>Kapuganti, Ramani Shyam</creator><creator>Bharati, Barsha</creator><creator>Mohanty, Pranjya Paramita</creator><creator>Alone, Debasmita Pankaj</creator><general>Portland Press Ltd The Biochemical Society</general><general>Portland Press Ltd</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>3V.</scope><scope>7QL</scope><scope>7QO</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PATMY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PYCSY</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-4809-925X</orcidid></search><sort><creationdate>20230331</creationdate><title>Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome</title><author>Kapuganti, Ramani Shyam ; Bharati, Barsha ; Mohanty, Pranjya Paramita ; Alone, Debasmita Pankaj</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c325t-305238406cee27fcfed5a8bc345000bc56d6753ed8bc013b2e6de285f8dcc0d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Age</topic><topic>Age related diseases</topic><topic>Alleles</topic><topic>Assaying</topic><topic>Binding sites</topic><topic>Cataracts</topic><topic>Cloning</topic><topic>Diagnostics & Biomarkers</topic><topic>Electrophoretic mobility</topic><topic>Epithelial cells</topic><topic>Epithelium</topic><topic>Exfoliation Syndrome - genetics</topic><topic>Experiments</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Functional analysis</topic><topic>Gene expression</topic><topic>Gene Expression & Regulation</topic><topic>Genetic diversity</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic testing</topic><topic>Genetic variance</topic><topic>Genotyping</topic><topic>Glaucoma</topic><topic>Glaucoma - genetics</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Macular degeneration</topic><topic>Molecular Bases of Health & Disease</topic><topic>Mutation</topic><topic>Nucleotides</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>Risk analysis</topic><topic>Risk factors</topic><topic>Single-nucleotide polymorphism</topic><topic>Software</topic><topic>Transcription factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kapuganti, Ramani Shyam</creatorcontrib><creatorcontrib>Bharati, Barsha</creatorcontrib><creatorcontrib>Mohanty, Pranjya Paramita</creatorcontrib><creatorcontrib>Alone, Debasmita Pankaj</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech 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>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</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>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</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>Environmental Science Collection</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Bioscience reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kapuganti, Ramani Shyam</au><au>Bharati, Barsha</au><au>Mohanty, Pranjya Paramita</au><au>Alone, Debasmita Pankaj</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome</atitle><jtitle>Bioscience reports</jtitle><addtitle>Biosci Rep</addtitle><date>2023-03-31</date><risdate>2023</risdate><volume>43</volume><issue>3</issue><spage>1</spage><pages>1-</pages><issn>0144-8463</issn><eissn>1573-4935</eissn><abstract>Pseudoexfoliation (PEX) is a multifactorial age-related disease involving deposition of extracellular proteinaceous aggregates on anterior ocular tissues. The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. Thirteen tag single-nucleotide polymorphisms (SNPs) in FBLN5 were genotyped using TaqMan SNP genotyping technology to identify association between SNPs of FBLN5 and PEX in an Indian cohort comprising 200 control and 273 PEX patients (169 PEXS and 104 PEXG). Functional analysis of risk variants was done through luciferase reporter assays and electrophoretic mobility shift assay (EMSA) using human lens epithelial cells. Genetic association and risk haplotype analysis showed a significant association of rs17732466:G>A (NC_000014.9:g.91913280G>A) and rs72705342:C>T (NC_000014.9:g.91890855C>T) within FBLN5 as risk factors with the advanced severe stage of the disease, pseudoexfoliation glaucoma (PEXG). Reporter assays showed allele-specific regulatory effect of rs72705342:C>T on gene expression, wherein, construct containing the risk allele showed a significant decrease in the reporter activity compared with the one with protective allele. EMSA further validated higher binding affinity of the risk variant to nuclear protein. In silico analysis predicted binding sites for two transcription factors, GR-α and TFII-I with risk allele at rs72705342:C>T, which were lost in the presence of protective allele. The EMSA showed probable binding of both these proteins to rs72705342. In conclusion, the present study identified the novel association of two genetic variants in FBLN5 with PEXG but not with PEXS, distinguishing between the early and the later forms of PEX. Further, rs72705342:C>T was found to be a functional variant.</abstract><cop>England</cop><pub>Portland Press Ltd The Biochemical Society</pub><pmid>36794549</pmid><doi>10.1042/BSR20221622</doi><orcidid>https://orcid.org/0000-0003-4809-925X</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Age Age related diseases Alleles Assaying Binding sites Cataracts Cloning Diagnostics & Biomarkers Electrophoretic mobility Epithelial cells Epithelium Exfoliation Syndrome - genetics Experiments Extracellular Matrix Proteins - genetics Functional analysis Gene expression Gene Expression & Regulation Genetic diversity Genetic Predisposition to Disease Genetic testing Genetic variance Genotyping Glaucoma Glaucoma - genetics Haplotypes Humans Macular degeneration Molecular Bases of Health & Disease Mutation Nucleotides Polymorphism, Single Nucleotide Proteins Risk analysis Risk factors Single-nucleotide polymorphism Software Transcription factors |
| title | Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome |
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