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
2011 Impact Factor: 2.205
2011 SCImago Journal Rankings: 0.230
ISI Accession Number IDWOS:000289944300001
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 2.205
2011 SCImago Journal Rankings: 0.230
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
Author Affiliations
  1. The University of Hong Kong
  2. Dalian Medical University
  3. Beijing Tongren Hospital