COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.
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ABSTRACT:
SUBMITTER: Metlapally R
PROVIDER: S-EPMC3936411 | biostudies-literature | 2009 Sep
REPOSITORIES: biostudies-literature
Publications
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.
Metlapally Ravikanth R Li Yi-Ju YJ Tran-Viet Khanh-Nhat KN Abbott Diana D Czaja Gregory R GR Malecaze Francois F Calvas Patrick P Mackey David D Rosenberg Thomas T Paget Sandrine S Zayats Tetyana T Owen Michael J MJ Guggenheim Jeremy A JA Young Terri L TL
Investigative ophthalmology & visual science 20090422 9
<h4>Purpose</h4>Collagen involvement in myopia development via scleral remodeling is well-known. Recently, COL1A1 and COL2A1 gene polymorphisms were reported to be associated with high-grade and common myopia, respectively. This study was conducted to investigate whether these collagen genes are associated and/or genetically linked with myopia in large Caucasian family datasets.<h4>Methods</h4>High-grade myopia was defined as <or=-5.00 D. Two independent datasets comprising 146 (Duke) and 130 (C ...[more]
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