Extreme myopia is more susceptible to SOX2 gene than high myopia
To explore the association between two single-nucleotide polymorphisms (SNPs) in the SOX2 gene and high and extreme myopia in the Han Chinese population. A genetic association study using a case-control method was performed with 139 high myopia, 318 extreme myopia, and 918 healthy participants from...
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| Veröffentlicht in: | Experimental eye research 2023-05, Vol.230, p.109435-109435, Article 109435 |
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| creator | Xu, Youmei Li, Lin Shan, Jiankang Du, Liping Jin, Xuemin Zhou, Pengyi |
| description | To explore the association between two single-nucleotide polymorphisms (SNPs) in the SOX2 gene and high and extreme myopia in the Han Chinese population.
A genetic association study using a case-control method was performed with 139 high myopia, 318 extreme myopia, and 918 healthy participants from the Chinese Han population. Two SNPs (rs4459940 and rs4575941) near SOX2 gene were selected for genotyping. We compared the allelic frequencies and haplotypes of the SNPs to assess their association with high and extreme myopia. This study was adjusted for sex and age of participants in the groups.
The mean ages of the extreme myopia and control subjects were 47.44 ± 15.59 and 44.15 ± 14.08 years, respectively. The rs4575941 SNP of the SOX2 gene and the GG and AG genotypes showed no significant association with the risk of high myopia as opposed to the AA genotype (GG, OR = 0.94, 95% CI = 0.55–1.60, P = 0.820, Pc = NS; AG, OR = 0.91, 95% CI = 0.54–1.52, P = 0.708, Pc = NS). However, the frequency of the risk G allele of rs4575941 was significantly higher in the extreme myopia group than in the control group (OR = 1.31, 95% CI = 1.08–1.59; P = 0.007; Pc = 0.014). Furthermore, there were significant differences in the GG genotype frequency between the extreme myopia and control groups (OR = 1.77, 95% CI = 1.45–2.74, P = 0.009, Pc = 0.036). The A-G haplotype frequency was higher in the extreme group (OR = 1.27, 95% CI = 1.05–1.55, P = 0.014), while there were no significant differences found in high myopia group (OR = 1.18, 95% CI = 0.77–1.31, P = 0.979).
The SOX2 rs4575941 polymorphism, in Chinese Han population, contributes to the susceptibility of extreme myopia. SOX2 may thus be implicated in extreme myopia rather than in high myopia.
•First association analysis of SOX2 gene SNPs in extreme myopia participants.Allele and genotype distributions of SNP were compared under different inheritance model.The SOX2 gene may be implicated in extreme myopia rather than in high myopia. |
| doi_str_mv | 10.1016/j.exer.2023.109435 |
| format | Article |
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A genetic association study using a case-control method was performed with 139 high myopia, 318 extreme myopia, and 918 healthy participants from the Chinese Han population. Two SNPs (rs4459940 and rs4575941) near SOX2 gene were selected for genotyping. We compared the allelic frequencies and haplotypes of the SNPs to assess their association with high and extreme myopia. This study was adjusted for sex and age of participants in the groups.
The mean ages of the extreme myopia and control subjects were 47.44 ± 15.59 and 44.15 ± 14.08 years, respectively. The rs4575941 SNP of the SOX2 gene and the GG and AG genotypes showed no significant association with the risk of high myopia as opposed to the AA genotype (GG, OR = 0.94, 95% CI = 0.55–1.60, P = 0.820, Pc = NS; AG, OR = 0.91, 95% CI = 0.54–1.52, P = 0.708, Pc = NS). However, the frequency of the risk G allele of rs4575941 was significantly higher in the extreme myopia group than in the control group (OR = 1.31, 95% CI = 1.08–1.59; P = 0.007; Pc = 0.014). Furthermore, there were significant differences in the GG genotype frequency between the extreme myopia and control groups (OR = 1.77, 95% CI = 1.45–2.74, P = 0.009, Pc = 0.036). The A-G haplotype frequency was higher in the extreme group (OR = 1.27, 95% CI = 1.05–1.55, P = 0.014), while there were no significant differences found in high myopia group (OR = 1.18, 95% CI = 0.77–1.31, P = 0.979).
The SOX2 rs4575941 polymorphism, in Chinese Han population, contributes to the susceptibility of extreme myopia. SOX2 may thus be implicated in extreme myopia rather than in high myopia.
•First association analysis of SOX2 gene SNPs in extreme myopia participants.Allele and genotype distributions of SNP were compared under different inheritance model.The SOX2 gene may be implicated in extreme myopia rather than in high myopia.</description><identifier>ISSN: 0014-4835</identifier><identifier>EISSN: 1096-0007</identifier><identifier>DOI: 10.1016/j.exer.2023.109435</identifier><identifier>PMID: 36921835</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Adult ; Case-Control Studies ; China - epidemiology ; Extreme myopia ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Han Chinese population ; Haplotypes ; High myopia ; Humans ; Middle Aged ; Myopia - genetics ; Polymorphism, Single Nucleotide ; Single nucleotide polymorphisms ; SOX2 ; SOXB1 Transcription Factors - genetics</subject><ispartof>Experimental eye research, 2023-05, Vol.230, p.109435-109435, Article 109435</ispartof><rights>2023</rights><rights>Copyright © 2023. Published by Elsevier Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c307t-3d7973609ee43502e8f84a4ab4ae4e635f17d32d38591fd5fe3d6e027610799b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0014483523000568$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36921835$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xu, Youmei</creatorcontrib><creatorcontrib>Li, Lin</creatorcontrib><creatorcontrib>Shan, Jiankang</creatorcontrib><creatorcontrib>Du, Liping</creatorcontrib><creatorcontrib>Jin, Xuemin</creatorcontrib><creatorcontrib>Zhou, Pengyi</creatorcontrib><title>Extreme myopia is more susceptible to SOX2 gene than high myopia</title><title>Experimental eye research</title><addtitle>Exp Eye Res</addtitle><description>To explore the association between two single-nucleotide polymorphisms (SNPs) in the SOX2 gene and high and extreme myopia in the Han Chinese population.
A genetic association study using a case-control method was performed with 139 high myopia, 318 extreme myopia, and 918 healthy participants from the Chinese Han population. Two SNPs (rs4459940 and rs4575941) near SOX2 gene were selected for genotyping. We compared the allelic frequencies and haplotypes of the SNPs to assess their association with high and extreme myopia. This study was adjusted for sex and age of participants in the groups.
The mean ages of the extreme myopia and control subjects were 47.44 ± 15.59 and 44.15 ± 14.08 years, respectively. The rs4575941 SNP of the SOX2 gene and the GG and AG genotypes showed no significant association with the risk of high myopia as opposed to the AA genotype (GG, OR = 0.94, 95% CI = 0.55–1.60, P = 0.820, Pc = NS; AG, OR = 0.91, 95% CI = 0.54–1.52, P = 0.708, Pc = NS). However, the frequency of the risk G allele of rs4575941 was significantly higher in the extreme myopia group than in the control group (OR = 1.31, 95% CI = 1.08–1.59; P = 0.007; Pc = 0.014). Furthermore, there were significant differences in the GG genotype frequency between the extreme myopia and control groups (OR = 1.77, 95% CI = 1.45–2.74, P = 0.009, Pc = 0.036). The A-G haplotype frequency was higher in the extreme group (OR = 1.27, 95% CI = 1.05–1.55, P = 0.014), while there were no significant differences found in high myopia group (OR = 1.18, 95% CI = 0.77–1.31, P = 0.979).
The SOX2 rs4575941 polymorphism, in Chinese Han population, contributes to the susceptibility of extreme myopia. SOX2 may thus be implicated in extreme myopia rather than in high myopia.
•First association analysis of SOX2 gene SNPs in extreme myopia participants.Allele and genotype distributions of SNP were compared under different inheritance model.The SOX2 gene may be implicated in extreme myopia rather than in high myopia.</description><subject>Adult</subject><subject>Case-Control Studies</subject><subject>China - epidemiology</subject><subject>Extreme myopia</subject><subject>Gene Frequency</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Han Chinese population</subject><subject>Haplotypes</subject><subject>High myopia</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>Myopia - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Single nucleotide polymorphisms</subject><subject>SOX2</subject><subject>SOXB1 Transcription Factors - genetics</subject><issn>0014-4835</issn><issn>1096-0007</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLAzEUhYMotlb_gAvJ0s3UvGYyARdKqQ8odKGCu5CZudOmzMtkRtp_b0qrS1c393DO4eZD6JqSKSU0udtMYQtuygjjQVCCxydoHB5JRAiRp2hMCBWRSHk8Qhfeb4LKhRTnaMQTxWjQx-hhvu0d1IDrXdtZg63HdesA-8Hn0PU2qwD3LX5bfjK8giYsa9PgtV2tj4lLdFaaysPVcU7Qx9P8ffYSLZbPr7PHRZRzIvuIF1JJnhAFEO4kDNIyFUaYTBgQkPC4pLLgrOBprGhZxCXwIgHCZEKJVCrjE3R76O1c-zWA73Vtw4lVZRpoB6-ZTFOp4iQlwcoO1ty13jsodedsbdxOU6L35PRG78npPTl9IBdCN8f-Iauh-Iv8ogqG-4MBwi-_bYj73EKTQ2Ed5L0uWvtf_w_Mm31y</recordid><startdate>202305</startdate><enddate>202305</enddate><creator>Xu, Youmei</creator><creator>Li, Lin</creator><creator>Shan, Jiankang</creator><creator>Du, Liping</creator><creator>Jin, Xuemin</creator><creator>Zhou, Pengyi</creator><general>Elsevier 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>7X8</scope></search><sort><creationdate>202305</creationdate><title>Extreme myopia is more susceptible to SOX2 gene than high myopia</title><author>Xu, Youmei ; Li, Lin ; Shan, Jiankang ; Du, Liping ; Jin, Xuemin ; Zhou, Pengyi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c307t-3d7973609ee43502e8f84a4ab4ae4e635f17d32d38591fd5fe3d6e027610799b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Adult</topic><topic>Case-Control Studies</topic><topic>China - epidemiology</topic><topic>Extreme myopia</topic><topic>Gene Frequency</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Han Chinese population</topic><topic>Haplotypes</topic><topic>High myopia</topic><topic>Humans</topic><topic>Middle Aged</topic><topic>Myopia - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Single nucleotide polymorphisms</topic><topic>SOX2</topic><topic>SOXB1 Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xu, Youmei</creatorcontrib><creatorcontrib>Li, Lin</creatorcontrib><creatorcontrib>Shan, Jiankang</creatorcontrib><creatorcontrib>Du, Liping</creatorcontrib><creatorcontrib>Jin, Xuemin</creatorcontrib><creatorcontrib>Zhou, Pengyi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Experimental eye research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xu, Youmei</au><au>Li, Lin</au><au>Shan, Jiankang</au><au>Du, Liping</au><au>Jin, Xuemin</au><au>Zhou, Pengyi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Extreme myopia is more susceptible to SOX2 gene than high myopia</atitle><jtitle>Experimental eye research</jtitle><addtitle>Exp Eye Res</addtitle><date>2023-05</date><risdate>2023</risdate><volume>230</volume><spage>109435</spage><epage>109435</epage><pages>109435-109435</pages><artnum>109435</artnum><issn>0014-4835</issn><eissn>1096-0007</eissn><abstract>To explore the association between two single-nucleotide polymorphisms (SNPs) in the SOX2 gene and high and extreme myopia in the Han Chinese population.
A genetic association study using a case-control method was performed with 139 high myopia, 318 extreme myopia, and 918 healthy participants from the Chinese Han population. Two SNPs (rs4459940 and rs4575941) near SOX2 gene were selected for genotyping. We compared the allelic frequencies and haplotypes of the SNPs to assess their association with high and extreme myopia. This study was adjusted for sex and age of participants in the groups.
The mean ages of the extreme myopia and control subjects were 47.44 ± 15.59 and 44.15 ± 14.08 years, respectively. The rs4575941 SNP of the SOX2 gene and the GG and AG genotypes showed no significant association with the risk of high myopia as opposed to the AA genotype (GG, OR = 0.94, 95% CI = 0.55–1.60, P = 0.820, Pc = NS; AG, OR = 0.91, 95% CI = 0.54–1.52, P = 0.708, Pc = NS). However, the frequency of the risk G allele of rs4575941 was significantly higher in the extreme myopia group than in the control group (OR = 1.31, 95% CI = 1.08–1.59; P = 0.007; Pc = 0.014). Furthermore, there were significant differences in the GG genotype frequency between the extreme myopia and control groups (OR = 1.77, 95% CI = 1.45–2.74, P = 0.009, Pc = 0.036). The A-G haplotype frequency was higher in the extreme group (OR = 1.27, 95% CI = 1.05–1.55, P = 0.014), while there were no significant differences found in high myopia group (OR = 1.18, 95% CI = 0.77–1.31, P = 0.979).
The SOX2 rs4575941 polymorphism, in Chinese Han population, contributes to the susceptibility of extreme myopia. SOX2 may thus be implicated in extreme myopia rather than in high myopia.
•First association analysis of SOX2 gene SNPs in extreme myopia participants.Allele and genotype distributions of SNP were compared under different inheritance model.The SOX2 gene may be implicated in extreme myopia rather than in high myopia.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>36921835</pmid><doi>10.1016/j.exer.2023.109435</doi><tpages>1</tpages></addata></record> |
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| subjects | Adult Case-Control Studies China - epidemiology Extreme myopia Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Genotype Han Chinese population Haplotypes High myopia Humans Middle Aged Myopia - genetics Polymorphism, Single Nucleotide Single nucleotide polymorphisms SOX2 SOXB1 Transcription Factors - genetics |
| title | Extreme myopia is more susceptible to SOX2 gene than high myopia |
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