13q32.1 as a candidate region for physiological anisocoria
13q32.1 as a candidate region for physiological anisocoria
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DOI：
10.1136/bjophthalmol-2021-319936
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发表时间：
2022-03-10
影响因子：
4.1
通讯作者：
Mollon，John D.
中科院分区：
文献类型：
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作者：
Bosten，Jenny M.;Lawrance-Owen，Adam J.;Mollon，John D.
BackgroundPhysiological anisocoria是一种不对称的瞳孔大小在没有pathology.MethodsImages的标准照明下的瞳孔被收集在一个全基因组关联研究的过程中的一系列的视觉功能在1060健康成人。每个参与者的DNA提取唾液samples.ResultsWe发现瞳孔不等和眼睛之间的屈光差异之间没有关系，也不等和敏锐度的差异。与虹膜亮度有一个小但重要的关系，因为瞳孔较小的眼睛与较亮的虹膜有关。瞳孔大小不等与13号染色体（13q32.1）的局部区域有很强的关联，该区域位于GPR180和SOX 21基因之间。结论与瞳孔不等大相关的特异区域是已知导致瞳孔扩张肌发育异常的微缺失（或微重复）区域，从而导致小瞳孔的常染色体显性遗传。13q32.1的改变可能通过改变编码核转录因子的SOX 21的表达而起作用。
BackgroundPhysiological anisocoria is an asymmetry of pupil size in the absence of pathology.MethodsImages of the pupils under standard illumination were collected in the course of a whole-genome association study of a range of visual functions in 1060 healthy adults. DNA for each participant was extracted from saliva samples.ResultsWe found no relationship between anisocoria and the difference in refraction between the eyes, nor between anisocoria and difference in acuity. There was a small but significant relationship with lightness of the iris, in that the eye with the smaller pupil was associated with the lighter iris. There was a strong association between anisocoria and a local region of chromosome 13 (13q32.1), a region lying between the genesGPR180andSOX21. The strongest association was with the single-nucleotide polymorphism rs9524583.ConclusionThe very specific region associated with anisocoria is one where microdeletions (or microduplications) are known to lead to abnormal development of pupil dilator muscle and hence to the autosomal dominant condition of microcoria. It is possible that alterations at 13q32.1 act by altering the expression ofSOX21, which encodes a nuclear transcription factor.