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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

TitleThe association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to chinese high myopia
Authors
Issue Date2011
Citation
Molecular 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.
Persistent Identifierhttp://hdl.handle.net/10722/147632
ISSN
2014 Impact Factor: 1.986
2014 SCImago Journal Rankings: 0.871
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorZhao, YYen_US
dc.contributor.authorZhang, FJen_US
dc.contributor.authorZhu, SQen_US
dc.contributor.authorDuan, Hen_US
dc.contributor.authorLi, Yen_US
dc.contributor.authorZhou, ZJen_US
dc.contributor.authorMa, WXen_US
dc.contributor.authorWang, NLen_US
dc.date.accessioned2012-05-29T06:05:07Z-
dc.date.available2012-05-29T06:05:07Z-
dc.date.issued2011en_US
dc.identifier.citationMolecular Vision, 2011, v. 17, p. 1003-1010en_US
dc.identifier.issn1090-0535en_US
dc.identifier.urihttp://hdl.handle.net/10722/147632-
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.en_US
dc.languageengen_US
dc.relation.ispartofMolecular Visionen_US
dc.subject.meshAdulten_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshCornea - Metabolism - Pathologyen_US
dc.subject.meshDna - Analysisen_US
dc.subject.meshDna Primers - Chemistry - Metabolismen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Expressionen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshGenetic Diseases, Inborn - Geneticsen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshLaminin - Genetics - Metabolismen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMyopia - Geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshPromoter Regions, Geneticen_US
dc.titleThe association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to chinese high myopiaen_US
dc.typeArticleen_US
dc.identifier.emailZhou, ZJ:zhongjun@hkucc.hku.hken_US
dc.identifier.authorityZhou, ZJ=rp00503en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid21541277en_US
dc.identifier.scopuseid_2-s2.0-79955599876en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79955599876&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume17en_US
dc.identifier.spage1003en_US
dc.identifier.epage1010en_US
dc.identifier.isiWOS:000289944300001-
dc.identifier.scopusauthoridZhao, YY=36998142400en_US
dc.identifier.scopusauthoridZhang, FJ=35108567200en_US
dc.identifier.scopusauthoridZhu, SQ=25923645500en_US
dc.identifier.scopusauthoridDuan, H=36487695800en_US
dc.identifier.scopusauthoridLi, Y=50961499800en_US
dc.identifier.scopusauthoridZhou, ZJ=8631856300en_US
dc.identifier.scopusauthoridMa, WX=36996646100en_US
dc.identifier.scopusauthoridWang, NL=7404340277en_US

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