机构:[1]Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Eye Ctr, Beijing Tongren Hosp, Beijing 100730, Peoples R China首都医科大学附属北京同仁医院首都医科大学附属同仁医院[2]Dalian Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Dalian, Peoples R China大连医科大学附属第一医院[3]Univ Hong Kong, Dept Biochem, Hong Kong, Hong Kong, Peoples R China
出处:
ISSN:
摘要:
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.
基金:
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [30872834]
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
通讯作者:
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
推荐引用方式(GB/T 7714):
Zhao Yan Yan,Zhang Feng Ju,Zhu Si Quan,et al.The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia[J].MOLECULAR VISION.2011,17(112):1003-1010.
APA:
Zhao, Yan Yan,Zhang, Feng Ju,Zhu, Si Quan,Duan, Hui,Li, Yang...&Wang, Ning Li.(2011).The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia.MOLECULAR VISION,17,(112)
MLA:
Zhao, Yan Yan,et al."The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia".MOLECULAR VISION 17..112(2011):1003-1010