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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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机构: [1]Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Eye Ctr, Beijing Tongren Hosp, Beijing 100730, Peoples R China [2]Dalian Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Dalian, Peoples R China [3]Univ Hong Kong, Dept Biochem, Hong Kong, Hong Kong, Peoples R China
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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 chi(2) tests or the Fisher exact tests. Results: One of the 5 SNPs showed a significant difference between patients and control subjects (rs2089760: p(genotype)=0.005, p(allel)=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.

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出版当年[2010]版:
大类 | 3 区 生物
小类 | 3 区 眼科学 4 区 生化与分子生物学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 生化与分子生物学 4 区 眼科学
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出版当年[2009]版:
Q1 OPHTHALMOLOGY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
最新[2023]版:
Q3 OPHTHALMOLOGY Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2009版] 出版当年五年平均 出版前一年[2008版] 出版后一年[2010版]

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第一作者机构: [1]Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Eye Ctr, Beijing Tongren Hosp, Beijing 100730, Peoples R China
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通讯机构: [1]Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Eye Ctr, Beijing Tongren Hosp, Beijing 100730, Peoples R China [2]Dalian Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Dalian, Peoples R China [*1]Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Eye Ctr, Beijing Tongren Hosp, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China
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