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Association Studies on Retina Diseases in Chinese Population

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Advances in Vision Research, Volume III

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Age-related macular degeneration (AMD) and diabetic retinopathy (DR), the leading causes of visual impairment in different ethnic groups, are known to be multifactorial and complex diseases with a strong genetic predisposition. In recent years, the advent of genome-wide association studies (GWAS) and whole-exome sequencing (WES) has greatly improved the screening and identification of genetic variants in these complex retinal diseases. In this chapter, we overviewed and summarized recent major advances in the association studies on AMD and DR in the Chinese population. Based on these studies, we found that the genetic variants in the HTRA1, CFH, SKIV2L, CETP genes were strongly associated with AMD. These genes including HTRA1, CFH, CETP, ARMS2, C3, FGD6, ABCG1, and ANGPT2, had significant associations with polypoidal choroidal vasculopathy (PCV), one type of AMD. There were also significant associations of several genes with DR in the Chinese population. These results further confirmed that genetic factors play a critical role in the development of these retina diseases.

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Authors and Affiliations

  1. The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

    Li Gan, Bo Gong & Zhenglin Yang

  2. Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China

    Li Gan, Bo Gong & Zhenglin Yang

Authors
  1. Li Gan
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  2. Bo Gong
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  3. Zhenglin Yang
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Correspondence to Zhenglin Yang .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Takeshi Iwata

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 Li Gan, Bo Gong, and Zhenglin Yang declare that they have no conflict of interest. No human or animal studies were performed by the authors for this article.

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Gan, L., Gong, B., Yang, Z. (2021). Association Studies on Retina Diseases in Chinese Population. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume III. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-15-9184-6_10

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  • DOI: https://doi.org/10.1007/978-981-15-9184-6_10

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