title: [Association of ZNF644, GRM6 and CTNND2 genes polymorphisms with high myopia].
abstract: OBJECTIVE
  To investigate the association of ZNF644, GRM6 and CTNND2 genes with high myopia in Jiangsu Chinese population.
  
  
  METHODS
  Case-control association study was used in this research. The subjects consisted of 114 high myopia (all eyes AXL ≥ 26 mm) and 132 normal control subjects (AXL were 22.0-24.0 mm). Subjects were collected from Affiliated Hospital of Nantong University ophthalmic center. This project was approved by the Ethics Committee of Affiliated Hospital of Nantong University. Fourteen single nucleotide polymorphisms (SNP) of ZNF644, GRM6 and CTNND2 genes were genotyped by TaqMan MGB probes using the real-time PCR system. Chi-square was used to test the allelic and genotypic associations between cases and controls.
  
  
  RESULTS
  ZNF644-rs358695 was associated with high myopia (P = 0.03). The frequency of the minor A allele of rs358695 was 41.2% in the high myopia and 50.8% in the controls, indicating a protective role. In genotype frequency analysis, ZNF644-rs358693 was significant difference between cases and controls in dominant model (P = 0.04). ZNF644-rs358695 was significant difference between cases and controls in recessive model (P = 0.02). In haplotype analysis, ACCG of ZNF644 showed statistical significance between cases and controls (P = 0.02). The other 9 SNP of GRM6 and CTNND2 were not associated with high myopia.
  
  
  CONCLUSIONS
  ZNF644 gene mutation was associated with high myopia. ZNF644 gene may play a role in the development of high myopia.
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University, Nantong 226001, China.
authors.forename: Huifen
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University, Nantong 226001, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University, Nantong 226001, China.
authors.forename: Shu
authors.initials: S
authors.lastname: Su
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University, Nantong 226001, China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Kang
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University, Nantong 226001, China.
authors.forename: Rongrong
authors.initials: R
authors.lastname: Zhu
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University,Nantong 226001, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Shi
authors.affiliation: Department of Ophthalmology,Affiliated Hospital of Nantong University, Nantong 226001, China. Email:guanhjeye@126.com.
authors.forename: Huaijin
authors.initials: H
authors.lastname: Guan
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D051177:Catenins / Q000235:genetics*; D002681:China; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017470:Receptors, Glutamate / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000095002:Delta Catenin
chemical_list: D051177:Catenins; C576075:GRM6 protein, human; D017470:Receptors, Glutamate; D014157:Transcription Factors; C573234:ZNF644 protein, human; D000095002:Delta Catenin; C000722348:CTNND2 protein, human