News Release

New loci for refractive errors and ocular biometric parameters in young Chinese Han adults

Peer-Reviewed Publication

Science China Press

Forest maps of loci associated with low to moderate myopia in this study

image: OR (odds ratio) value and 95%CI (confidence interval) for each SNP (part of the SNPs included in this study) associated with low to moderate myopia are shown in these Forest maps, based on analysis of both allele distribution and genotype distribution (DOM, dominant model; REC, recessive model). view more 

Credit: ©Science China Press

This study is led by Prof. Ningli Wang, Prof. Shiming Li and Dr. Yunyun Sun from Beijing Tongren Hospital. The researchers proposed that there might be some protective genetic factors to prevent people from developing myopia, since there always remain 10-20% of people who stay non-myopic into adulthood, despite being exposed to similar environmental factors which lead to the significant increase of myopia prevalence.

Considering that ocular characteristics such as short axial length, shallow anterior chamber and thick lens are related to the inhibition of myopia, searching for genes associated with these phenotypes seems to be an important approach. In particular, since these ocular phenotypes are common characteristics of primary angle closure glaucoma (PACG), the team proposed that certain risk genes for PACG might act as protective factors for myopia.

Based on previous results, a study with a sample of 2,678 Chinese Han young adults was designed and carried out to analyze the associations between PACG-related genes and myopia as well as ocular biometric parameters. Among these genes, SNP on ABCC5 and CHAT was found to be protective factors for myopia and high myopia, respectively. ABCC5, which encodes a carrier protein for intracellular secondary messenger transport, might affect the development of axial length and refraction by regulating the secondary messenger cAMP pathway. CHAT, which encodes the choline acetyltransferase, might participate in myopia development by regulating the synthesis of acetylcholine which acts on muscarinic receptors.

This study provides a new idea on myopic gene research and its findings have great significance for exploring the effective controlling measures for myopia. Further functional studies to elaborate the regulatory role of these genes in myopia as well as the mechanism of ocular development will prospectively make it possible to carry out effective prevention of myopia by regulating targeted genes or proteins.

See the article:

New Loci for Refractive Errors and Ocular Biometric Parameters in Young Chinese Han Adults

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