Genetic and Environmental Contributions of Primary Angle-Closure Glaucoma and Primary Open-Angle Glaucoma: A Nationwide Study in Taiwan

青光眼 医学 遗传力 人口学 相对风险 人口 一级亲属 眼科 开角型青光眼 家族史 内科学 环境卫生 遗传学 置信区间 生物 社会学
作者
Lee Js,Chang‐Fu Kuo,Wei‐Min Chen,Ken‐Kuo Lin,Lai‐Chu See
出处
期刊:American Journal of Ophthalmology [Elsevier BV]
卷期号:258: 99-109
标识
DOI:10.1016/j.ajo.2023.07.001
摘要

Purpose To estimate the familial risks of primary angle-closure glaucoma (PACG) and primary open-angle glaucoma (POAG) and assess the relative contributions of environmental and genetic factors to these risks. Design Retrospective, population-based cohort study. Methods We used the 2000-2017 Taiwan National Health Insurance Program database to construct 4,144,508 families for the 2017 population (N = 23,373,209). We used the polygenic liability model to estimate glaucoma's heritability and familial transmission. The degree of familial aggregation of glaucoma was obtained from the adjusted relative risk for individuals whose first-degree relatives had glaucoma using Cox's model. Results PACG and POAG prevalence rates for individuals whose first-degree relatives had PACG or POAG were 0.95% and 2.40%, higher than those of the general population (0.61% and 0.40%, respectively). The relative risk of PACG in individuals whose first-degree relatives had PACG was 2.44 (95% CI = 2.31-2.58). The relative risk of POAG in individuals whose first-degree relatives had POAG was 6.66 (95% CI = 6.38-6.94). The estimated contributions to PACG and POAG phenotypic variances were 19.4% and 59.6% for additive genetic variance, 19.1% and 23.2% for common environmental factors shared by family members, and 61.5% and 17.2% for nonshared environmental factors, respectively. Conclusions These data highlight the relative importance of genetic contribution to POAG and environmental contribution to PACG. Therefore, future work may need to focus on finding more novel environmental determinants of PACG. To estimate the familial risks of primary angle-closure glaucoma (PACG) and primary open-angle glaucoma (POAG) and assess the relative contributions of environmental and genetic factors to these risks. Retrospective, population-based cohort study. We used the 2000-2017 Taiwan National Health Insurance Program database to construct 4,144,508 families for the 2017 population (N = 23,373,209). We used the polygenic liability model to estimate glaucoma's heritability and familial transmission. The degree of familial aggregation of glaucoma was obtained from the adjusted relative risk for individuals whose first-degree relatives had glaucoma using Cox's model. PACG and POAG prevalence rates for individuals whose first-degree relatives had PACG or POAG were 0.95% and 2.40%, higher than those of the general population (0.61% and 0.40%, respectively). The relative risk of PACG in individuals whose first-degree relatives had PACG was 2.44 (95% CI = 2.31-2.58). The relative risk of POAG in individuals whose first-degree relatives had POAG was 6.66 (95% CI = 6.38-6.94). The estimated contributions to PACG and POAG phenotypic variances were 19.4% and 59.6% for additive genetic variance, 19.1% and 23.2% for common environmental factors shared by family members, and 61.5% and 17.2% for nonshared environmental factors, respectively. These data highlight the relative importance of genetic contribution to POAG and environmental contribution to PACG. Therefore, future work may need to focus on finding more novel environmental determinants of PACG.
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