Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia
| Autor: | Suh-Hang Hank Juo, Kuo Sheng Hung, Hsin Shih Wang, Wansu Chang, Chung Ling Liang, Yueh Ying Tsai |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Subset Analysis Candidate gene Adolescent genetic structures Taiwan Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Collagen Type I Asian People Risk Factors Myopia Genetics Humans SNP Family history Gene Genetics (clinical) Haplotype Case-control study eye diseases Collagen Type I alpha 1 Chain Haplotypes Case-Control Studies Female sense organs |
| Zdroj: | Journal of Human Genetics. 52:374-377 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1007/s10038-007-0117-6 |
| Popis: | 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 refractionor=-6 D and controlor=-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. |
| Databáze: | OpenAIRE |
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