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Originally published In Press as doi:10.1167/iovs.08-2537 on December 5, 2008
 (Investigative Ophthalmology and Visual Science. 2009;50:1546-1551.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.08-2537
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High Myopia Is Not Associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF Genes

Panfeng Wang,1 Shiqiang Li,1 Xueshan Xiao,1 Xiaoyun Jia,1 Xiaodong Jiao,2 Xiangming Guo,1 and Qingjiong Zhang1

1From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China; and the 2Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

PURPOSE. Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes have been declared to be associated with high myopia in Chinese living in southeast China, but none of them has been confirmed by additional studies. This study was conducted to verify the reported positive association results by analysis of subjects from the same region.

METHODS. DNA was prepared from venous leukocytes of 288 patients with high myopia and 208 control subjects. The four SNPs (rs2229336, rs3759223, rs1982073, and rs3735520) in the four genes were genotyped by restriction fragment length polymorphism (RFLP) analysis. The allele and genotype frequencies of these SNPs from patients and control subjects were compared by {chi}2 test.

RESULTS. Polymorphism at rs2229336 was not detected in all 496 subjects. There were no statistically significant differences between patients and control subjects for the other three SNPs: rs3759223, rs1982073, and rs3735520.

CONCLUSIONS. The study does not support the association of high myopia with alleles of rs2229336 in TGIF, rs3759223 in lumican, rs1982073 in TGFB1, and rs3735520 in HGF. These results provide a view contrary to those in previous reports. Reasonable criteria as well as replication should be the first priority for genetic association studies to avoid excessive expansion of false-positive results, especially for high myopia.




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H.-J. Lin, Y.-J. Kung, Y.-J. Lin, J. J. C. Sheu, B.-H. Chen, Y.-C. Lan, C.-H. Lai, Y.-A. Hsu, L. Wan, and F. J. Tsai
Association of the Lumican Gene Functional 3'-UTR Polymorphism with High Myopia
Invest. Ophthalmol. Vis. Sci., January 1, 2010; 51(1): 96 - 102.
[Abstract] [Full Text] [PDF]


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