An association study of the COL1A1 gene and high myopia in a Han Chinese population.
OBJECTIVE
Single nucleotide polymorphisms (SNPs) in the collagen type I (COL1A1) gene have been shown to be significantly associated with high myopia in a Japanese population. This present study was conducted to investigate whether COL1A1 is associated with high myopia in a Han Chinese population.


METHODS
High myopia is defined by a spherical equivalent of less than or equal to -6.00 diopter sphere and an axial length longer than or equal to 26.0 mm in the affected eye. We genotyped rs2075555 and rs2269336 SNPs in COL1A1 in a Ha n Chinese group composed of 697 high myopia patients and 762 normal controls.


RESULTS
Neither of the two SNPs showed significant association with high myopia (p(allelic)=0.252 for rs2075555, and p(allelic)=0.699 for rs2269336).


CONCLUSIONS
Our study revealed that SNPs in COL1A1 are not significantly associated with high myopia in the Han Chinese population.
Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Sichuan, China.
Dingding
D
Zhang
Yi
Y
Shi
Bo
B
Gong
Fei
F
He
Fang
F
Lu
He
H
Lin
Zhengzheng
Z
Wu
Jing
J
Cheng
Bin
B
Chen
Shihuang
S
Liao
Shi
S
Ma
Jianbin
J
Hu
Zhenglin
Z
Yang
D000328:Adult; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005123:Eye / Q000503:physiopathology*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D058889:Molecular Typing; D009216:Myopia / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain