title: Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia.
abstract: 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.
authors.affiliation: Bright-Eyes Clinic, Kaohsiung, Taiwan.|Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Chung-Ling
authors.initials: CL
authors.lastname: Liang
authors.affiliation: Clinical Research Center, Taipei Medical University Wan Fang Hospital, Taipei, Taiwan.
authors.forename: Kuo-Sheng
authors.initials: KS
authors.lastname: Hung
authors.affiliation: Graduate Institute of Medical Genetics, Kaohsiung Medical University, 100 TzYou First Road, Kaohsiung, 807, Taiwan.
authors.forename: Yueh-Ying
authors.initials: YY
authors.lastname: Tsai
authors.affiliation: Graduate Institute of Medical Genetics, Kaohsiung Medical University, 100 TzYou First Road, Kaohsiung, 807, Taiwan.
authors.forename: Wansu
authors.initials: W
authors.lastname: Chang
authors.affiliation: Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Hsin-Shih
authors.initials: HS
authors.lastname: Wang
authors.affiliation: 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.
authors.forename: Suh-Hang Hank
authors.initials: SH
authors.lastname: Juo
mesh_terms: 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
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain