title: Evaluation of MMP2 as a candidate gene for high myopia.
abstract: OBJECTIVE
  Matrix metalloproteinase 2 (MMP2) has been shown to be expressed in the human sclera, and is increased in the sclera of the eye with myopia induced by form deprivation in chicks when compared with the control eye. The purpose of this study was to examine the relationship between high myopia and MMP2 in a mainland Han Chinese population.
  
  
  METHODS
  Four hundred unrelated patients with high myopia and 400 normal controls in a mainland Han Chinese population were studied. All the subjects were genotyped for 20 tag single nucleotide polymorphisms (SNPs) in MMP2 with the dye terminator-based SNaPshot method. The distribution of the genotypes in the cases and controls was compared with a χ(2) test. Screening for mutations in the coding regions and the adjacent intronic regions of MMP2 was performed in 200 patients with high myopia and 200 normal controls by direct sequencing.
  
  
  RESULTS
  None of the 20 tested SNPs showed significant association with high myopia in this study. Seven variations were detected upon sequencing of the coding regions and the adjacent intronic regions of MMP2 in 200 subjects with high myopia and 200 normal controls. One novel variation, c.1287G>A (p.K429K), was detected in 79 of the 200 patients with high myopia (65 heterozygous and 14 homozygous) and in 84 of the 200 controls (67 heterozygous and 17 homozygous). The c.1810G>A mutation (p. Arg500His) was detected in three of the 200 patients with high myopia but not in the controls. The five other variations, known as polymorphisms, were detected in the case and control groups.
  
  
  CONCLUSIONS
  We found no evidence that MMP2 is responsible for high myopia in these Han Chinese subjects and hence is unlikely to be important in the genetic predisposition to high myopia. Our results imply that MMP2 may not play a major role in high myopia in the Han Chinese population.
authors: Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
authors: Bo
authors: B
authors: Gong
authors: Xiaoqi
authors: X
authors: Liu
authors: Dingding
authors: D
authors: Zhang
authors: Pu
authors: P
authors: Wang
authors: Lulin
authors: L
authors: Huang
authors: Ying
authors: Y
authors: Lin
authors: Fang
authors: F
authors: Lu
authors: Shi
authors: S
authors: Ma
authors: Jing
authors: J
authors: Cheng
authors: Rong
authors: R
authors: Chen
authors: Xiaobo
authors: X
authors: Li
authors: He
authors: H
authors: Lin
authors: Guangqun
authors: G
authors: Zeng
authors: Xiong
authors: X
authors: Zhu
authors: Jianbin
authors: J
authors: Hu
authors: Zhenglin
authors: Z
authors: Yang
authors: Yi
authors: Y
authors: Shi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D008875:Middle Aged; D009216:Myopia / Q000201:enzymology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2
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