Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA.
Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA.
Int J Environ Res Public Health. 2021 Feb 6;18(4):1551. doi: 10.3390/ijerph18041551.
Glaucoma leads to millions of cases of visual impairment and blindness around the world. Its susceptibility is shaped by both environmental and genetic risk factors. Although over 120 risk loci have been identified for glaucoma, a large portion of its heritability is still unexplained. Here we describe the foundation of the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) study to investigate the genetic architecture of glaucoma in the Ohio Amish, which exhibits lower genetic and environmental heterogeneity compared to the general population. To date, we have enrolled 81 Amish individuals in our study from Holmes County, Ohio. As a part of our enrollment process, 62 GGLEAM study participants (42 glaucoma-affected and 20 unaffected individuals) received comprehensive eye examinations and glaucoma evaluations. Using the data from the Anabaptist Genealogy Database, we found that 80 of the GGLEAM study participants were related to one another through a large, multigenerational pedigree containing 1586 people. We plan to integrate the health and kinship data obtained for the GGLEAM study to interrogate glaucoma genetics and pathophysiology in this unique population.
青光眼导致了全世界数以百万计的视力损害和失明病例。其易感性受到环境和遗传风险因素的共同影响。尽管已经确定了 120 多个青光眼风险基因座，但仍有很大一部分遗传率尚未得到解释。在这里，我们描述了遗传学在俄亥俄州阿米什人中评估青光眼（GGLEAM）研究的基础，以研究俄亥俄州阿米什人中青光眼的遗传结构，与一般人群相比，阿米什人群的遗传和环境异质性较低。迄今为止，我们已经从俄亥俄州的霍姆斯县招募了 81 名阿米什人参加我们的研究。作为我们招募过程的一部分，62 名 GGLEAM 研究参与者（42 名青光眼患者和 20 名非青光眼患者）接受了全面的眼科检查和青光眼评估。利用安纳托利亚基因数据库的数据，我们发现 GGLEAM 研究的 80 名参与者彼此之间存在关联，他们来自一个包含 1586 人的大型、多代家谱。我们计划整合 GGLEAM 研究中获得的健康和亲属关系数据，以探究这一独特人群中的青光眼遗传学和病理生理学。
