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Han Chinese: Gene polymorphisms associated with risk of age-related macular degeneration

Age-related macular degeneration (AMD) is a leading cause of blindness in patients greater than 55 years of age in the US. Age-related macular degeneration  affects 2.44% of Chinese people aged 45-49 years; 18.98% of Chinese people aged 85-89 years³.  Researchers from the Department of Ophthalmology of Huazhong University of Science and Technology, China concluded that four gene polymorphisms, CX3CR1 839C/T (Thr280Met), CX3CR1 745G/A (Val249Ile), VEGFA +674C/T, and VEGFA +936C/T, are biomarkers for the susceptibility of AMD¹.  Screening for these polymorphisms may be important for detecting AMD risk early in Han Chinese.  However, the Y402H polymorphism in the complement factor H gene is a known risk factor for AMD in North America and Europe, different from China².

¹Huang, Q., & Xiang, Y. (2018). Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population. Medical science monitor : international medical journal of experimental and clinical research, 24, 1693-1700. doi:10.12659/MSM.906298

²Kim, Na Rae et al. (2008). Association between Complement Factor H Gene Polymorphisms and Neovascular Age-Related Macular Degeneration in Koreans. Invest. Ophthalmol. Vis. Sci. 2008;49(5):2071-2076. doi:10.1167/iovs.07-1195.

³Song, P., Du, Y., Chan, K. Y., Theodoratou, E., & Rudan, I. (2017). The national and subnational prevalence and burden of age-related macular degeneration in China. Journal of global health, 7(2), doi:10.7189/jogh.07.020703

About Shannon Luu

Santa Clara University, BS in Biology

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