Genome-Wide Association study for glaucoma

Jiang Liu, Zhuo Zhang, S. M. Chin, Yikying Teo, W. K. Wong, N. Tan, Joo-Hwee Lim, Shijian Lu, Huiqi Li, T. Wong
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Abstract

The Genome-Wide Association (GWA) study is the latest approach in the development of genetic studies and is renowned for its widespread success in identifying disease variants within the genome for various common diseases. It is a highly popular study amongst geneticists worldwide, evident from the numerous GWA studies conducted in laboratories all over the world. This paper introduces various GWA study designs currently recognized, including other aspects such as the software tools and its progress thus far. Especially, the paper reviews the genetic studies for glaucoma, an ocular disease which can lead to irreversible and permanent vision loss. Glaucomatous progression can be slowed or even halted if detected early; however, genetic information on glaucoma has not been well established yet. Therefore, by conducting a GWA study on glaucoma to find comprehensive associated genetic variants, the early detection of glaucoma through GWA may finally be seen as a possibility.
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青光眼的全基因组关联研究
全基因组协会(genome - wide Association, GWA)的研究是遗传研究发展的最新方法,并因其在识别各种常见疾病的基因组内疾病变异方面取得的广泛成功而闻名。这是一项在全世界遗传学家中非常受欢迎的研究,从世界各地实验室进行的众多GWA研究中可以看出。本文介绍了目前公认的各种GWA研究设计,包括软件工具等方面以及迄今为止的进展。本文特别综述了青光眼的遗传学研究,这是一种可导致不可逆和永久性视力丧失的眼部疾病。如果早期发现,青光眼的进展可以减缓甚至停止;然而,青光眼的遗传信息尚未得到很好的确定。因此,通过对青光眼进行GWA研究,发现全面的相关遗传变异,最终有望通过GWA早期发现青光眼。
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