Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia.
Reduced scleral collagen accumulation has been found in the development of myopia. Single nucleotide polymorphisms (SNPs) at the type I collagen alpha-1 gene (COL1A1) may cause different susceptibilities to myopia. We conducted a case-control study to systematically examine COL1A1 as a candidate gene for high myopia. A case was defined as spherical refraction <or=-6 D and control >or=-1.5 D. The study comprised 471 cases and 623 controls, and ten tagging SNPs were genotyped. None of the SNPs reached the significant level of 0.05. Subset analysis on cases with a strong family history did not demonstrate significant results. We could not find an interaction between gene and near work. Exploratory analyses by changing the cutoff values to re-define cases and controls did not improve the results. Haplotype analysis did not yield significant association with myopia. This study failed to demonstrate COL1A1 as a significant risk factor for high myopia.
Liang
Chung-Ling
CL
Bright-Eyes Clinic, Kaohsiung, Taiwan.|Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.
Hung
Kuo-Sheng
KS
Clinical Research Center, Taipei Medical University Wan Fang Hospital, Taipei, Taiwan.
Tsai
Yueh-Ying
YY
Graduate Institute of Medical Genetics, Kaohsiung Medical University, 100 TzYou First Road, Kaohsiung, 807, Taiwan.
Chang
Wansu
W
Graduate Institute of Medical Genetics, Kaohsiung Medical University, 100 TzYou First Road, Kaohsiung, 807, Taiwan.
Wang
Hsin-Shih
HS
Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.
Juo
Suh-Hang Hank
SH
Graduate Institute of Medical Genetics, Kaohsiung Medical University, 100 TzYou First Road, Kaohsiung, 807, Taiwan. shj34@columbia.edu.|Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. shj34@columbia.edu.|Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan. shj34@columbia.edu.
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013624:Taiwan / Q000208:ethnology
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain