title: Assessment of exonic single nucleotide polymorphisms in the adenosine A2A receptor gene to high myopia susceptibility in Chinese subjects.
abstract: OBJECTIVE
  The adenosine A(2A) receptor (A(2A)R) modulates collagen synthesis and extracellular matrix production in ocular tissues that contribute to eye growth and the development of myopia. We aimed to determine if single nucleotide polymorphisms (SNPs) in A(2A)R exons associates with high myopia found in Chinese subjects.
  
  
  METHODS
  DNA samples were prepared from venous lymphocytes of 175 Chinese subjects with high myopia of less than -8.00 diopters (D) correction and 101 ethnically similar controls with between -1.00 D and +1.00 D correction. The coding region sequences of A(2A)R were amplified by PCR and analyzed by Sanger sequencing. The detected variations were confirmed by reverse sequencing. Allelic frequencies of all detected common SNPs were assessed for Hardy-Weinberg equilibrium.
  
  
  RESULTS
  Five variations in A(2A)R exons, 5675 A>G, 5765 C>T, 13325 G>A, 13448 C>T, and 14000 T>A, were detected in controls at a low frequency (<1%). However, one SNP, 13772 T>C (rs5751876), showed its polymorphism in 53.3% of the total study population. The rs5751876 is a synonymous substitution located in a tyrosine codon of exon 2. Despite no significant difference in genotype distribution between cases and controls, the frequency of heterozygotes with the rs5751876 genotype was significantly lower in subjects with high myopia.
  
  
  CONCLUSIONS
  The reduced frequency of the heterozygote rs5751876 genotype in subjects suggests a possible association of A(2A)R with high myopia in a Chinese population.
authors: School of Optometry and Ophthalmology and Eye Hospital, Wenzhou Medical College, Zhejiang, China.
authors: Xiaoyan
authors: X
authors: Chen
authors: Anquan
authors: A
authors: Xue
authors: Wei
authors: W
authors: Chen
authors: Yang
authors: Y
authors: Ding
authors: Dongsheng
authors: D
authors: Yan
authors: Jiqing
authors: J
authors: Peng
authors: Changqing
authors: C
authors: Zeng
authors: Jia
authors: J
authors: Qu
authors: Xiangtian
authors: X
authors: Zhou
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D005091:Exons; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D043705:Receptor, Adenosine A2A / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D043705:Receptor, Adenosine A2A