ArticleAdvances in ophthalmology practice and research
The association study between
Article in Advances in ophthalmology practice and research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
9 authors.
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Abstract
Purposes: Myopia, in particular high myopia (HM), is a major global ocular disorder and genetic factors playing a crucial role in its development. This study aimed to shed light on the genetic association between candidate single nucleotide polymorphisms (SNPs) and HM, offering insights into the mechanisms underlying HM. Methods: This case-control study involves 1008 unrelated Han Chinese participants, including 508 HM patients and 500 healthy controls. Eleven candidate SNPs that were previously linked to refractive errors in other populations were genotyped using multiplex polymerase chain reaction and high-throughput sequencing. We analyzed the associations between SNPs and HM under five genetic models, adjusting for age and sex. Ocular biometrics, such as axial length (AL) and refractive error, were correlated with the significant SNPs identified. We conducted functional annotation of the target SNP using bioinformatic tools. In addition, a form-deprivation myopia mouse model was employed to validate the role of the candidate gene through Western blot analysis of retinal proteins. Results: Among the 11 SNPs analyzed, rs17036350 in the Mechanistic Target of Rapamycin Kinase ( Conclusions: This study suggested that rs17036350 within
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