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A Replication Study With New Findings

Yi Zha, MMed; Kim Hung Leung, PhD; Ka Kin Lo, BSc(Hons); Wai Yan Fung, BSc(Hons); Po Wah Ng, BSc(Hons); Ming-guang Shi, MMed; Maurice K. H. Yap, PhD; Shea Ping Yip, PhD, MPhil, FIBMS

Arch Ophthalmol. 2009;127(4):541-548.

Objective  To investigate the genetic association between transforming growth factor β1 (TGFB1) gene polymorphisms and high myopia in a Chinese population.

Methods  Six hundred adults were recruited for this case-control study, including 300 subjects with high myopia (–8.0 diopters or worse) and 300 control subjects (within ±1.0 diopters). Seven tag single-nucleotide polymorphisms (SNPs) and 1 coding SNP were genotyped. Their frequencies were compared between cases and controls by statistical tests.

Results  Four SNPs in the 5' half of the gene showed significant differences in allele and genotype frequencies between cases and controls. The results remained significant after correction for multiple comparisons. The previously reported association of the coding SNP rs1800470 with high myopia was successfully replicated. The tag SNP rs4803455 in intron 2 was found to account for the positive results of the other 3 SNPs by stepwise logistic regression. The minor allele T of rs4803455 was protective against high myopia with an odds ratio of 0.67 (95% confidence interval, 0.53-0.86; P = .001).

Conclusion  TGFB1 is a myopia susceptibility gene.

Clinical Relevance  TGFB1 is the first myopia susceptibility gene successfully replicated. The functional significance of rs4803455 or the genuine causative SNPs in linkage disequilibrium with it remains to be determined.

Author Affiliations: Department of Ophthalmology, College of Medicine, Zhejiang University, Hangzhou, China (Drs Zha and Shi); School of Optometry (Drs Zha and Yap and Messrs Lo and Ng) and Department of Health Technology and Informatics (Drs Zha, Leung, and Yip; Messrs Lo and Ng; and Ms Fung), The Hong Kong Polytechnic University, Hong Kong Special Administrative Region; and The Second Affiliated Hospital of Wenzhou Medical College, Wenzhou, China (Drs Zha and Shi).

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