Associations of genetic variants for refractive error and axial length in adults with ocular endophenotypes in children: a cross-sectional and longitudinal study

IF 3.7 2区医学 Q1 OPHTHALMOLOGY

British Journal of Ophthalmology Pub Date : 2024-09-26 DOI:10.1136/bjo-2024-325606

Ebenezer Zaabaar, Erica Shing, Xiu Juan Zhang, Yuyao Wang, Ka Wai Kam, Yuzhou Zhang, Wilson W. K. Yip, Alvin L. Young, Pancy O. S. Tam, Clement C. Tham, Chi Pui Pang, Jason C. Yam, Li Jia Chen

{"title":"Associations of genetic variants for refractive error and axial length in adults with ocular endophenotypes in children: a cross-sectional and longitudinal study","authors":"Ebenezer Zaabaar, Erica Shing, Xiu Juan Zhang, Yuyao Wang, Ka Wai Kam, Yuzhou Zhang, Wilson W. K. Yip, Alvin L. Young, Pancy O. S. Tam, Clement C. Tham, Chi Pui Pang, Jason C. Yam, Li Jia Chen","doi":"10.1136/bjo-2024-325606","DOIUrl":null,"url":null,"abstract":"Aims To investigate the associations of genetic variants previously linked to axial length (AL) and spherical equivalent refraction (SE) in adults with refractive error and related endophenotypes in children, at baseline and 3-year follow-up. Methods 15 candidate single-nucleotide polymorphisms (SNPs), selected from previous Genome-Wide Association Studies and meta-analyses, were genotyped in 2819 Chinese children, who had undergone baseline and 3-year follow-up cycloplegic refraction, ocular biometry and ocular health examinations. Linear regression analyses were conducted to assess the associations of the SNPs with baseline measurements and longitudinal changes in SE, spherical power (SPH), AL, corneal radius of curvature (CR) and AL/CR ratio. Results SNPs ZMAT4 rs7829127, ZMAT4 rs16890057, TOX rs7837791, GRIA4 rs11601239 and RDH5 rs3138142 were associated with SE (β=0.233, p=4.21×10−4; β=0.221, p=7.87×10−4; β=0.106, p=0.0076; β=0.084, p=0.041; β=0.14, p=0.013, respectively) and SPH (β=0.24, p=2.3×10−4; β=0.232, p=3.8×10−4; β=0.088, p=0.025; β=0.086, p=0.034; β=0.14, p=0.012, respectively). Among them, ZMAT4 rs7829127 and rs16890057, were also associated with AL (β=−0.128, p=5.6×10−4; β=−0.128, p=5.21×10−4) and AL/CR ratio (β=−0.014, p=0.0028; β=−0.014, p=0.0034), whereas TOX rs7837791 was associated with AL (β=−0.062, p=0.0058) and GRIA4 11 601 239 with AL/CR ratio (β=−0.0058, p=0.049). Additionally, CD55 rs1652333 and RDH5 rs3138142 were associated with 3-year longitudinal changes in AL (β=0.062, p=0.018; β=−0.079, p=0.029) and CR (β=0.014, p=0.027; β=−0.018, p=0.035). Conclusion Among SNPs previously associated with AL and SE in adults, variants in ZMAT4 , TOX and GRIA4 were associated with AL, SE, SPH, and/or AL/CR ratio, while variants in RDH5 and CD55 showed associations with AL and CR changes in children. Data are available on reasonable request. All data relevant to the study are included in the article or uploaded as online supplemental information.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":3.7000,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"British Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/bjo-2024-325606","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Aims To investigate the associations of genetic variants previously linked to axial length (AL) and spherical equivalent refraction (SE) in adults with refractive error and related endophenotypes in children, at baseline and 3-year follow-up. Methods 15 candidate single-nucleotide polymorphisms (SNPs), selected from previous Genome-Wide Association Studies and meta-analyses, were genotyped in 2819 Chinese children, who had undergone baseline and 3-year follow-up cycloplegic refraction, ocular biometry and ocular health examinations. Linear regression analyses were conducted to assess the associations of the SNPs with baseline measurements and longitudinal changes in SE, spherical power (SPH), AL, corneal radius of curvature (CR) and AL/CR ratio. Results SNPs ZMAT4 rs7829127, ZMAT4 rs16890057, TOX rs7837791, GRIA4 rs11601239 and RDH5 rs3138142 were associated with SE (β=0.233, p=4.21×10−4; β=0.221, p=7.87×10−4; β=0.106, p=0.0076; β=0.084, p=0.041; β=0.14, p=0.013, respectively) and SPH (β=0.24, p=2.3×10−4; β=0.232, p=3.8×10−4; β=0.088, p=0.025; β=0.086, p=0.034; β=0.14, p=0.012, respectively). Among them, ZMAT4 rs7829127 and rs16890057, were also associated with AL (β=−0.128, p=5.6×10−4; β=−0.128, p=5.21×10−4) and AL/CR ratio (β=−0.014, p=0.0028; β=−0.014, p=0.0034), whereas TOX rs7837791 was associated with AL (β=−0.062, p=0.0058) and GRIA4 11 601 239 with AL/CR ratio (β=−0.0058, p=0.049). Additionally, CD55 rs1652333 and RDH5 rs3138142 were associated with 3-year longitudinal changes in AL (β=0.062, p=0.018; β=−0.079, p=0.029) and CR (β=0.014, p=0.027; β=−0.018, p=0.035). Conclusion Among SNPs previously associated with AL and SE in adults, variants in ZMAT4 , TOX and GRIA4 were associated with AL, SE, SPH, and/or AL/CR ratio, while variants in RDH5 and CD55 showed associations with AL and CR changes in children. Data are available on reasonable request. All data relevant to the study are included in the article or uploaded as online supplemental information.

查看原文本刊更多论文

成人屈光不正和轴长的基因变异与儿童眼球内型的关系：一项横断面和纵向研究

目的研究基线和 3 年随访中与成人轴长（AL）和球面等效屈光度（SE）有关的遗传变异与儿童屈光不正及相关内表型的关联。方法从以往的全基因组关联研究和荟萃分析中筛选出 15 个候选单核苷酸多态性（SNPs），对 2819 名接受过基线和 3 年随访屈光度数、眼生物测量和眼健康检查的中国儿童进行基因分型。通过线性回归分析评估了 SNPs 与 SE、球面力 (SPH)、AL、角膜曲率半径 (CR) 和 AL/CR 比值的基线测量值和纵向变化的相关性。结果 SNPs ZMAT4 rs7829127、ZMAT4 rs16890057、TOX rs7837791、GRIA4 rs11601239 和 RDH5 rs3138142 与 SE 相关（β=0.233，p=4.21×10-4；β=0.221，p=7.87×10-4；β=0.106，p=0.0076；β=0.084，p=0.041；β=0.14，p=0.013）和SPH（β=0.24，p=2.3×10-4；β=0.232，p=3.8×10-4；β=0.088，p=0.025；β=0.086，p=0.034；β=0.14，p=0.012）。其中，ZMAT4 rs7829127和rs16890057，还与AL（β=-0.128，p=5.6×10-4；β=-0.128，p=5.21×10-4）和AL/CR比值（β=-0.014，p=0.0028；β=-0.014，p=0.0034），而TOX rs7837791与AL相关（β=-0.062，p=0.0058），GRIA4 11 601 239与AL/CR比值相关（β=-0.0058，p=0.049）。此外，CD55 rs1652333和RDH5 rs3138142与AL（β=0.062，p=0.018；β=-0.079，p=0.029）和CR（β=0.014，p=0.027；β=-0.018，p=0.035）的3年纵向变化相关。结论在先前与成人 AL 和 SE 相关的 SNPs 中，ZMAT4、TOX 和 GRIA4 的变异与 AL、SE、SPH 和/或 AL/CR 比率相关，而 RDH5 和 CD55 的变异则与儿童的 AL 和 CR 变化相关。如有合理要求，可提供相关数据。与研究相关的所有数据均包含在文章中或作为在线补充信息上传。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

British Journal of Ophthalmology 医学-眼科学

CiteScore

10.30

自引率

2.40%

发文量

213

审稿时长

3-6 weeks

期刊介绍： The British Journal of Ophthalmology (BJO) is an international peer-reviewed journal for ophthalmologists and visual science specialists. BJO publishes clinical investigations, clinical observations, and clinically relevant laboratory investigations related to ophthalmology. It also provides major reviews and also publishes manuscripts covering regional issues in a global context.