Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals

被引：0

作者：

Akiyama, Masato ^{[1
,2
]}

Tamiya, Gen ^{[3
]}

Fujiwara, Kohta ^{[2
]}

Shiga, Yukihiro ^{[4
,5
,6
]}

Yokoyama, Yu ^{[6
]}

Hashimoto, Kazuki ^{[6
]}

Sato, Masataka ^{[6
]}

Sato, Kota ^{[6
,7
]}

Narita, Akira ^{[3
]}

Hashimoto, Sawako ^{[2
]}

Ueda, Emi ^{[2
]}

Furuta, Yoshihiko ^{[8
]}

Hata, Jun ^{[8
]}

Miyake, Masahiro ^{[9
]}

Ikeda, Hanako O. ^{[9
]}

Suda, Kenji ^{[9
]}

Numa, Shogo ^{[9
]}

Mori, Yuki ^{[9
]}

Morino, Kazuya ^{[9
]}

Murakami, Yusuke ^{[2
]}

Shimokawa, Sakurako ^{[2
]}

Nakamura, Shun ^{[2
]}

Yawata, Nobuyo ^{[1
]}

Fujisawa, Kimihiko ^{[10
]}

Yamana, Satoshi ^{[11
]}

Mori, Kenichiro ^{[12
]}

Ikeda, Yasuhiro ^{[13
]}

Miyata, Kazunori ^{[14
]}

Mori, Keisuke ^{[15
]}

Ogino, Ken ^{[16
]}

Koyanagi, Yoshito ^{[17
]}

Kamatani, Yoichiro ^{[18
]}

Sonoda, Koh-Hei ^{[2
]}

Nakazawa, Toru ^{[6
,19
,20
]}

机构：

[1] Kyushu Univ, Grad Sch Med Sci, Dept Ocular Pathol & Imaging Sci, Fukuoka, Japan

[2] Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Japan

[3] Tohoku Univ, Tohoku Med Megabank Org, Sendai, Japan

[4] Univ Montreal, Dept Neurosci, Montreal, PQ, Canada

[5] Ctr Hosp Univ Montreal, Montreal, PQ, Canada

[6] Tohoku Univ, Grad Sch Med, Dept Ophthalmol, 1-1 Seiryo, Aoba Ku, Sendai, Miyagi 9808574, Japan

[7] Tohoku Univ, Grad Sch Med, Dept Adv Ophthalm Med, Sendai, Miyagi, Japan

[8] Kyushu Univ, Grad Sch Med Sci, Dept Epidemiol & Publ Hlth, Fukuoka, Japan

[9] Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan

[10] Hamanomachi Hosp, Dept Ophthalmol, Fukuoka, Japan

[11] Natl Hosp Org Kyushu Med Ctr, Dept Ophthalmol, Fukuoka, Japan

[12] Aso Iizuka Hosp, Dept Gastroenterol, Iizuka, Japan

[13] Univ Miyazaki, Fac Med, Dept Ophthalmol, Miyazaki, Japan

[14] Miyata Eye Hosp, Miyazaki, Japan

[15] Int Univ Hlth & Welf, Dept Ophthalmol, Nasushiobara, Tochigi, Japan

[16] Japanese Red Cross Wakayama Med Ctr, Dept Ophthalmol, Wakayama, Japan

[17] Nagoya Univ, Grad Sch Med, Dept Ophthalmol, Nagoya, Japan

[18] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Lab Complex Trait Genom, Tokyo, Japan

[19] Tohoku Univ, Grad Sch Med, Dept Retinal Dis Control, Sendai, Japan

[20] Tohoku Univ, Grad Sch Med, Dept Ophthalm Imaging & Informat Analyt, Sendai, Japan

来源：

OPHTHALMOLOGY | 2024年 / 131卷 / 11期

关键词：

Genetic risk score; Genome-wide association study; Precision medicine; Primary open-angle glaucoma; GENOME-WIDE ASSOCIATION; GENOTYPE IMPUTATION; POPULATION; SCORES; PREVALENCE; VARIANTS; DESIGN; ARRAY;

D O I：

10.1016/j.ophtha.2024.05.026

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: To assess the impact of genetic risk estimation for primary open-angle glaucoma (POAG) in Japanese individuals. Design: Cross-sectional analysis. Participants: Genetic risk scores (GRSs) were constructed based on a genome-wide association study (GWAS) of POAG in Japanese people. A total of 3625 Japanese individuals, including 1191 patients and 2434 controls (Japanese Tohoku), were used for the model selection. We also evaluated the discriminative accuracy of constructed GRSs in a dataset comprising 1034 patients and 1147 controls (the Japan Glaucoma Society Omics Group [JGS-OG] and the Genomic Research Committee of the Japanese Ophthalmological Society [GRC-JOS]) and 1900 participants from a population-based study (Hisayama Study). Methods: We evaluated 2 types of GRSs: polygenic risk scores using the pruning and thresholding procedure and a GRS using variants associated with POAG in the GWAS of the International Glaucoma Genetics Consortium (IGGC). We selected the model with the highest areas under the receiver operating characteristic curve (AUC). In the population-based study, we evaluated the correlations between GRS and ocular measurements. Main Outcome Measure: Proportion of patients with POAG after stratification according to the GRS. Results: We found that a GRS using 98 variants, which showed genome-wide significance in the IGGC, showed the best discriminative accuracy (AUC, 0.65). In the Japanese Tohoku, the proportion of patients with POAG in the top 10% individuals was significantly higher than that in the lowest 10% (odds ratio [OR], 6.15; 95% confidence interval [CI], 4.35-8.71). In the JGS-OG and GRC-JOS, we confirmed similar impact of POAG GRS (AUC, 0.64; OR [top vs. bottom decile], 5.81; 95% CI, 3.79-9.01). In the population-based study, POAG prevalence was significantly higher in the top 20% individuals of the GRS compared with the bottom 20% (9.2% vs. 5.0%). However, the discriminative accuracy was low (AUC, 0.56). The POAG GRS was correlated positively with intraocular pressure (r = 0.08: P = 4.0 x 10-4) and vertical cup-to-disc ratio (r = 0.11; P = 4.0 x 10-6). Conclusions: The GRS showed moderate discriminative accuracy for POAG in the Japanese population. However, risk stratification in the general population showed relatively weak discriminative performance. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article. Ophthalmology 2024;131:1271-1280 (c) 2024 by the American Academy of Ophthalmology

引用

页码：1271 / 1280

页数：10

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