Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.
OBJECTIVE
To investigate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), hepatocyte growth factor (HGF), hepatocyte growth factor receptor (MET), and aggrecan (ACAN) genes in a Han Chinese population.


METHODS
Sixteen SNPs were genotyped by the SNaPshot method in a subject group composed of 1052 HM patients and 1070 controls. Statistical analysis was performed to determine the association between the SNPs and the susceptibility of HM.


RESULTS
Two SNPs (rs3784757 and rs1516794) in ACAN were significantly associated with HM (p=0.0334 and 0.0236, odds ratio [OR]=0.83 and 0.79, respectively). The risk haplotype CA and the protective haplotype TT, generated by rs3784757 and rs1516794, showed significant association with HM (p=0.0327 and 0.0304, OR=1.21 and 0.80, respectively). Two SNPs (rs38857 and rs10215153) in MET and one SNP (rs3784757) in ACAN showed significant association with HM (p=0.0064, 0.0113, and 0.0373; OR=4.14, 5.74 and 0.52; respectively) in the recessive model. None of the other SNPs showed significant association with HM.


CONCLUSIONS
Our results suggested that genetic variants in ACAN and MET are associated with HM. Functional roles of ACAN and MET in the development of HM need to be further investigated.
1 Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine , Qingdao, China .
Xian
X
Yang
Xiaoqi
X
Liu
Jie
J
Peng
Hong
H
Zheng
Fang
F
Lu
Bo
B
Gong
Guiqiu
G
Zhao
Yan
Y
Meng
Hongzai
H
Guan
Meizhen
M
Ning
Zhenglin
Z
Yang
Yi
Y
Shi
D053674:Aggrecans / Q000235:genetics*; D002681:China; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D017228:Hepatocyte Growth Factor / Q000235:genetics*; D006801:Humans; D009216:Myopia / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D019859:Proto-Oncogene Proteins c-met / Q000235:genetics*; D012720:Severity of Illness Index; D000099179:Myocilin
D053674:Aggrecans; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D017228:Hepatocyte Growth Factor; D019859:Proto-Oncogene Proteins c-met; D000099179:Myocilin