Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors
Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72...
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Veröffentlicht in: | Genes 2022-06, Vol.13 (7), p.1166 |
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creator | Kunceviciene, Edita Muskieta, Tomas Sriubiene, Margarita Liutkeviciene, Rasa Smalinskiene, Alina Grabauskyte, Ingrida Insodaite, Ruta Juoceviciute, Dovile Kucinskas, Laimutis |
description | Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220−0.765) and 0.383-fold (95% CI: 0.199−0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654−0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism. |
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Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220−0.765) and 0.383-fold (95% CI: 0.199−0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654−0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes13071166</identifier><identifier>PMID: 35885949</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Age ; Astigmatism ; Astigmatism - epidemiology ; Connexin 36 ; Connexins ; Dopamine ; Gap Junction delta-2 Protein ; Gene expression ; Gene polymorphism ; Genotyping ; Haplotypes ; Heritability ; Humans ; Hyperopia - epidemiology ; Hyperopia - genetics ; Myopia ; Myopia - genetics ; Photoreceptors ; Polymerase chain reaction ; Proteins ; Refractive Errors - genetics ; Retina ; Single-nucleotide polymorphism ; Statistical analysis ; Variables</subject><ispartof>Genes, 2022-06, Vol.13 (7), p.1166</ispartof><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c415t-c333b387bd4eb28fdafd4a050fe64110063581abc3acdbfc22a6bdcc7157ed5e3</citedby><cites>FETCH-LOGICAL-c415t-c333b387bd4eb28fdafd4a050fe64110063581abc3acdbfc22a6bdcc7157ed5e3</cites><orcidid>0000-0003-1509-3660 ; 0000-0001-6117-6307 ; 0000-0002-0485-0358 ; 0000-0002-3273-3394 ; 0000-0001-8816-3995 ; 0000-0002-0423-7318 ; 0000-0002-6078-5263</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/PMC9319995/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319995/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27923,27924,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35885949$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kunceviciene, Edita</creatorcontrib><creatorcontrib>Muskieta, Tomas</creatorcontrib><creatorcontrib>Sriubiene, Margarita</creatorcontrib><creatorcontrib>Liutkeviciene, Rasa</creatorcontrib><creatorcontrib>Smalinskiene, Alina</creatorcontrib><creatorcontrib>Grabauskyte, Ingrida</creatorcontrib><creatorcontrib>Insodaite, Ruta</creatorcontrib><creatorcontrib>Juoceviciute, Dovile</creatorcontrib><creatorcontrib>Kucinskas, Laimutis</creatorcontrib><title>Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220−0.765) and 0.383-fold (95% CI: 0.199−0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654−0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.</description><subject>Age</subject><subject>Astigmatism</subject><subject>Astigmatism - epidemiology</subject><subject>Connexin 36</subject><subject>Connexins</subject><subject>Dopamine</subject><subject>Gap Junction delta-2 Protein</subject><subject>Gene expression</subject><subject>Gene polymorphism</subject><subject>Genotyping</subject><subject>Haplotypes</subject><subject>Heritability</subject><subject>Humans</subject><subject>Hyperopia - epidemiology</subject><subject>Hyperopia - genetics</subject><subject>Myopia</subject><subject>Myopia - genetics</subject><subject>Photoreceptors</subject><subject>Polymerase chain reaction</subject><subject>Proteins</subject><subject>Refractive Errors - genetics</subject><subject>Retina</subject><subject>Single-nucleotide polymorphism</subject><subject>Statistical analysis</subject><subject>Variables</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</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><recordid>eNpdkU1LAzEQhoMotlSPXiXgxctqPnc3F6HUtSqCIgreQjabbVPapCbbiv_eFLVY5zID8_DOxwvACUYXlAp0OTHORExRgXGe74E-QQXNGCN8_0_dA8cxzlAKhghC_BD0KC9LLpjog2oYo9dWddY76Fs4eqM5fAq-M9bBymnfWDeB4zQHju-vCfyw3RQ-mzYo3dm1gVUIPsQjcNCqeTTHP3kAXm-ql9Ft9vA4vhsNHzLNMO8yTSmtaVnUDTM1KdtGtQ1TiKPW5AxjhPK0GFa1pko3dasJUXndaF1gXpiGGzoAV9-6y1W9MI02rgtqLpfBLlT4lF5Zudtxdionfi0FxUIIngTOfwSCf1-Z2MmFjdrM58oZv4qS5IKTsiRCJPTsHzrzq-DSeRuKpW_iHCUq-6Z08DEG026XwUhuPJI7HiX-9O8FW_rXEfoFoN2M9Q</recordid><startdate>20220628</startdate><enddate>20220628</enddate><creator>Kunceviciene, Edita</creator><creator>Muskieta, Tomas</creator><creator>Sriubiene, Margarita</creator><creator>Liutkeviciene, Rasa</creator><creator>Smalinskiene, Alina</creator><creator>Grabauskyte, Ingrida</creator><creator>Insodaite, Ruta</creator><creator>Juoceviciute, Dovile</creator><creator>Kucinskas, Laimutis</creator><general>MDPI AG</general><general>MDPI</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>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-1509-3660</orcidid><orcidid>https://orcid.org/0000-0001-6117-6307</orcidid><orcidid>https://orcid.org/0000-0002-0485-0358</orcidid><orcidid>https://orcid.org/0000-0002-3273-3394</orcidid><orcidid>https://orcid.org/0000-0001-8816-3995</orcidid><orcidid>https://orcid.org/0000-0002-0423-7318</orcidid><orcidid>https://orcid.org/0000-0002-6078-5263</orcidid></search><sort><creationdate>20220628</creationdate><title>Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors</title><author>Kunceviciene, Edita ; Muskieta, Tomas ; Sriubiene, Margarita ; Liutkeviciene, Rasa ; Smalinskiene, Alina ; Grabauskyte, Ingrida ; Insodaite, Ruta ; Juoceviciute, Dovile ; Kucinskas, Laimutis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c415t-c333b387bd4eb28fdafd4a050fe64110063581abc3acdbfc22a6bdcc7157ed5e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Age</topic><topic>Astigmatism</topic><topic>Astigmatism - epidemiology</topic><topic>Connexin 36</topic><topic>Connexins</topic><topic>Dopamine</topic><topic>Gap Junction delta-2 Protein</topic><topic>Gene expression</topic><topic>Gene polymorphism</topic><topic>Genotyping</topic><topic>Haplotypes</topic><topic>Heritability</topic><topic>Humans</topic><topic>Hyperopia - epidemiology</topic><topic>Hyperopia - genetics</topic><topic>Myopia</topic><topic>Myopia - genetics</topic><topic>Photoreceptors</topic><topic>Polymerase chain reaction</topic><topic>Proteins</topic><topic>Refractive Errors - genetics</topic><topic>Retina</topic><topic>Single-nucleotide polymorphism</topic><topic>Statistical analysis</topic><topic>Variables</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kunceviciene, Edita</creatorcontrib><creatorcontrib>Muskieta, Tomas</creatorcontrib><creatorcontrib>Sriubiene, Margarita</creatorcontrib><creatorcontrib>Liutkeviciene, Rasa</creatorcontrib><creatorcontrib>Smalinskiene, Alina</creatorcontrib><creatorcontrib>Grabauskyte, Ingrida</creatorcontrib><creatorcontrib>Insodaite, Ruta</creatorcontrib><creatorcontrib>Juoceviciute, Dovile</creatorcontrib><creatorcontrib>Kucinskas, Laimutis</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content 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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kunceviciene, Edita</au><au>Muskieta, Tomas</au><au>Sriubiene, Margarita</au><au>Liutkeviciene, Rasa</au><au>Smalinskiene, Alina</au><au>Grabauskyte, Ingrida</au><au>Insodaite, Ruta</au><au>Juoceviciute, Dovile</au><au>Kucinskas, Laimutis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2022-06-28</date><risdate>2022</risdate><volume>13</volume><issue>7</issue><spage>1166</spage><pages>1166-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220−0.765) and 0.383-fold (95% CI: 0.199−0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654−0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>35885949</pmid><doi>10.3390/genes13071166</doi><orcidid>https://orcid.org/0000-0003-1509-3660</orcidid><orcidid>https://orcid.org/0000-0001-6117-6307</orcidid><orcidid>https://orcid.org/0000-0002-0485-0358</orcidid><orcidid>https://orcid.org/0000-0002-3273-3394</orcidid><orcidid>https://orcid.org/0000-0001-8816-3995</orcidid><orcidid>https://orcid.org/0000-0002-0423-7318</orcidid><orcidid>https://orcid.org/0000-0002-6078-5263</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Age Astigmatism Astigmatism - epidemiology Connexin 36 Connexins Dopamine Gap Junction delta-2 Protein Gene expression Gene polymorphism Genotyping Haplotypes Heritability Humans Hyperopia - epidemiology Hyperopia - genetics Myopia Myopia - genetics Photoreceptors Polymerase chain reaction Proteins Refractive Errors - genetics Retina Single-nucleotide polymorphism Statistical analysis Variables |
title | Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors |
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