Extreme myopia is more susceptible to SOX2 gene than high myopia

Xu, Youmei; Li, Lin; Shan, Jiangkang; Du, Liping; Jin, Xuemin; Zhou, Pengyi

doi:10.1016/j.exer.2023.109435

Experimental Eye Research

2023

DOI: 10.1016/j.exer.2023.109435

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Extreme myopia is more susceptible to SOX2 gene than high myopia

Youmei Xu

Lin Li

Jiangkang Shan

et al.

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2024

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Exome-wide association study identifies KDELR3 mutations in extreme myopia

Yuan,

Zhuang,

Liu

et al. 2024

Nat Commun

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Extreme myopia (EM), defined as a spherical equivalent (SE) ≤ −10.00 diopters (D), is one of the leading causes of sight impairment. Known EM-associated variants only explain limited risk and are inadequate for clinical decision-making. To discover risk genes, we performed a whole-exome sequencing (WES) on 449 EM individuals and 9606 controls. We find a significant excess of rare protein-truncating variants (PTVs) in EM cases, enriched in the retrograde vesicle-mediated transport pathway. Employing single-cell RNA-sequencing (scRNA-seq) and a single-cell polygenic burden score (scPBS), we pinpointed PI16 + /SFRP4+ fibroblasts as the most relevant cell type. We observed that KDELR3 is highly expressed in scleral fibroblast and involved in scleral extracellular matrix (ECM) organization. The zebrafish model revealed that kdelr3 downregulation leads to elongated ocular axial length and increased lens diameter. Together, our study provides insight into the genetics of EM in humans and highlights KDELR3’s role in EM pathogenesis.

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Exome-wide association study identifies KDELR3 mutations in extreme myopia

Yuan,

Zhuang,

Liu

et al. 2024

Nat Commun

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Extreme myopia is more susceptible to SOX2 gene than high myopia

Cited by 1 publication

References 35 publications

Exome-wide association study identifies KDELR3 mutations in extreme myopia

Exome-wide association study identifies KDELR3 mutations in extreme myopia

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