title: The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia.
abstract: OBJECTIVE
  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 χ(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.
authors.affiliation: Eye Center of Beijing Tongren Hospital of Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.
authors.forename: Yan Yan
authors.initials: YY
authors.lastname: Zhao
authors.forename: Feng Ju
authors.initials: FJ
authors.lastname: Zhang
authors.forename: Si Quan
authors.initials: SQ
authors.lastname: Zhu
authors.forename: Hui
authors.initials: H
authors.lastname: Duan
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.forename: Zhong Jun
authors.initials: ZJ
authors.lastname: Zhou
authors.forename: Wen Xian
authors.initials: WX
authors.lastname: Ma
authors.forename: Ning
authors.initials: N
authors.lastname: Li Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003315:Cornea / Q000378:metabolism / Q000473:pathology; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007797:Laminin / Q000235:genetics / Q000378:metabolism; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D017931:DNA Primers; D007797:Laminin; C084098:laminin A; D004247:DNA