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Article: The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to chinese high myopia
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TitleThe association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to chinese high myopia
 
AuthorsZhao, YY3
Zhang, FJ2 3
Zhu, SQ3
Duan, H2
Li, Y2
Zhou, ZJ1
Ma, WX3
Wang, NL3
 
Issue Date2011
 
CitationMolecular Vision, 2011, v. 17, p. 1003-1010 [How to Cite?]
 
AbstractPurpose: High myopia is a severe hereditary ocular disease leading to blindness. LAMA1 (alpha subunit of laminin) is a promising candidate gene for high myopia present in the MYP2 (myopia 2) region. The purpose of this study was to determine if high myopia is associated with single nucleotide polymorphism (SNP) variants in LAMA1 in Chinese subjects. Methods: Ninety-seven Chinese subjects with high myopia and ethnically and sexually matched 103 normal controls were enrolled. Genomic DNA was prepared from peripheral blood. The 5 SNPs of LAMA1 were analyzed using PCR and SNaPshot. Allele frequencies were tested for Hardy-Weinberg disequilibrium. The genotype and allele frequencies were evaluated using the χ2 tests or the Fisher exact tests. Results: One of the 5 SNPs showed a significant difference between patients and control subjects (rs2089760: pgenotype=0.005, pallel=0.003). There were no statistically significant differences between patients and control subjects for the other four SNPs: rs566655, rs11664063, rs607230, and rs3810046. Conclusions: Our results indicate that the polymorphism of rs2089760, located in the promoter region of LAMA1, may be associated with high myopia in the Chinese population and should be investigated further. © 2011 Molecular Vision.
 
ISSN1090-0535
2012 Impact Factor: 1.987
2012 SCImago Journal Rankings: 0.879
 
ISI Accession Number IDWOS:000289944300001
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorZhao, YY
 
dc.contributor.authorZhang, FJ
 
dc.contributor.authorZhu, SQ
 
dc.contributor.authorDuan, H
 
dc.contributor.authorLi, Y
 
dc.contributor.authorZhou, ZJ
 
dc.contributor.authorMa, WX
 
dc.contributor.authorWang, NL
 
dc.date.accessioned2012-05-29T06:05:07Z
 
dc.date.available2012-05-29T06:05:07Z
 
dc.date.issued2011
 
dc.description.abstractPurpose: High myopia is a severe hereditary ocular disease leading to blindness. LAMA1 (alpha subunit of laminin) is a promising candidate gene for high myopia present in the MYP2 (myopia 2) region. The purpose of this study was to determine if high myopia is associated with single nucleotide polymorphism (SNP) variants in LAMA1 in Chinese subjects. Methods: Ninety-seven Chinese subjects with high myopia and ethnically and sexually matched 103 normal controls were enrolled. Genomic DNA was prepared from peripheral blood. The 5 SNPs of LAMA1 were analyzed using PCR and SNaPshot. Allele frequencies were tested for Hardy-Weinberg disequilibrium. The genotype and allele frequencies were evaluated using the χ2 tests or the Fisher exact tests. Results: One of the 5 SNPs showed a significant difference between patients and control subjects (rs2089760: pgenotype=0.005, pallel=0.003). There were no statistically significant differences between patients and control subjects for the other four SNPs: rs566655, rs11664063, rs607230, and rs3810046. Conclusions: Our results indicate that the polymorphism of rs2089760, located in the promoter region of LAMA1, may be associated with high myopia in the Chinese population and should be investigated further. © 2011 Molecular Vision.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationMolecular Vision, 2011, v. 17, p. 1003-1010 [How to Cite?]
 
dc.identifier.epage1010
 
dc.identifier.isiWOS:000289944300001
 
dc.identifier.issn1090-0535
2012 Impact Factor: 1.987
2012 SCImago Journal Rankings: 0.879
 
dc.identifier.pmid21541277
 
dc.identifier.scopuseid_2-s2.0-79955599876
 
dc.identifier.spage1003
 
dc.identifier.urihttp://hdl.handle.net/10722/147632
 
dc.identifier.volume17
 
dc.languageeng
 
dc.relation.ispartofMolecular Vision
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdult
 
dc.subject.meshAsian Continental Ancestry Group - Genetics
 
dc.subject.meshCase-Control Studies
 
dc.subject.meshCornea - Metabolism - Pathology
 
dc.subject.meshDna - Analysis
 
dc.subject.meshDna Primers - Chemistry - Metabolism
 
dc.subject.meshFemale
 
dc.subject.meshGene Expression
 
dc.subject.meshGene Frequency
 
dc.subject.meshGenetic Diseases, Inborn - Genetics
 
dc.subject.meshGenetic Predisposition To Disease
 
dc.subject.meshGenotype
 
dc.subject.meshHumans
 
dc.subject.meshLaminin - Genetics - Metabolism
 
dc.subject.meshLinkage Disequilibrium
 
dc.subject.meshMale
 
dc.subject.meshMiddle Aged
 
dc.subject.meshMyopia - Genetics
 
dc.subject.meshPolymerase Chain Reaction
 
dc.subject.meshPolymorphism, Single Nucleotide
 
dc.subject.meshPromoter Regions, Genetic
 
dc.titleThe association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to chinese high myopia
 
dc.typeArticle
 
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<contributor.author>Zhang, FJ</contributor.author>
<contributor.author>Zhu, SQ</contributor.author>
<contributor.author>Duan, H</contributor.author>
<contributor.author>Li, Y</contributor.author>
<contributor.author>Zhou, ZJ</contributor.author>
<contributor.author>Ma, WX</contributor.author>
<contributor.author>Wang, NL</contributor.author>
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<identifier.uri>http://hdl.handle.net/10722/147632</identifier.uri>
<description.abstract>Purpose: High myopia is a severe hereditary ocular disease leading to blindness. LAMA1 (alpha subunit of laminin) is a promising candidate gene for high myopia present in the MYP2 (myopia 2) region. The purpose of this study was to determine if high myopia is associated with single nucleotide polymorphism (SNP) variants in LAMA1 in Chinese subjects. Methods: Ninety-seven Chinese subjects with high myopia and ethnically and sexually matched 103 normal controls were enrolled. Genomic DNA was prepared from peripheral blood. The 5 SNPs of LAMA1 were analyzed using PCR and SNaPshot. Allele frequencies were tested for Hardy-Weinberg disequilibrium. The genotype and allele frequencies were evaluated using the &#967;2 tests or the Fisher exact tests. Results: One of the 5 SNPs showed a significant difference between patients and control subjects (rs2089760: pgenotype=0.005, pallel=0.003). There were no statistically significant differences between patients and control subjects for the other four SNPs: rs566655, rs11664063, rs607230, and rs3810046. Conclusions: Our results indicate that the polymorphism of rs2089760, located in the promoter region of LAMA1, may be associated with high myopia in the Chinese population and should be investigated further. &#169; 2011 Molecular Vision.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong
  2. Dalian Medical University
  3. Beijing Tongren Hospital