Department of Ophthalmology, Massachusetts Eye and Ear, Mass General Brigham, Harvard Medical School, Boston, MA 02114, USA.
Department of Medicine, Brigham and Women's Hospital, Mass General Brigham, Harvard Medical School, Boston, MA 02115, USA.
Int J Mol Sci. 2023 Feb 15;24(4):3925. doi: 10.3390/ijms24043925.
The phenotypic and genetic links between body fat phenotypes and primary open-angle glaucoma (POAG) are unclear. We conducted a meta-analysis of relevant longitudinal epidemiological studies to evaluate the phenotypic link. To identify genetic links, we performed genetic correlation analysis and pleiotropy analysis of genome-wide association study summary statistics datasets of POAG, intraocular pressure (IOP), vertical cup-to-disc ratio, obesity, body mass index (BMI), and waist-to-hip ratio. In the meta-analysis, we first established that obese and underweight populations have a significantly higher risk of POAG using longitudinal data. We also discovered positive genetic correlations between POAG and BMI and obesity phenotypes. Finally, we identified over 20 genomic loci jointly associated with POAG/IOP and BMI. Among them, the genes loci , , , , and showed the lowest false discovery rate. These findings support the connection between body fat phenotypes and POAG. The newly identified genomic loci and genes render further functional investigation.
体脂表型与原发性开角型青光眼（POAG）之间的表型和遗传联系尚不清楚。我们进行了一项相关的纵向流行病学研究的荟萃分析，以评估表型联系。为了确定遗传联系，我们对 POAG、眼压（IOP）、垂直杯盘比、肥胖、体重指数（BMI）和腰臀比的全基因组关联研究汇总统计数据集进行了遗传相关分析和多效性分析。在荟萃分析中，我们首先使用纵向数据确定肥胖和体重不足人群患 POAG 的风险显著增加。我们还发现 POAG 与 BMI 和肥胖表型之间存在正遗传相关性。最后，我们确定了 20 多个与 POAG/IOP 和 BMI 共同相关的基因组位点。其中，基因位点 、 、 、 和 显示出最低的假发现率。这些发现支持了体脂表型与 POAG 之间的联系。新确定的基因组位点和基因需要进一步的功能研究。
