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首页> 外文期刊>Ophthalmic genetics >Genetic susceptibility to hydroxychloroquine retinal toxicity
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Genetic susceptibility to hydroxychloroquine retinal toxicity

机译：羟基氯喹的遗传易感性视网膜毒性

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Background:Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity. Materials and Methods:Case-control study of patients with confirmed hydroxychloroquine retinal toxicity identified through ophthalmology departments of tertiary care hospitals and private ophthalmic practice in Australia. Participants were 26 Caucasian patients with hydroxychloroquine retinal toxicity who were matched with control subjects for age, gender, treatment duration and indication for hydroxychloroquine treatment. Participants underwent clinical examination, optical coherence tomographic scanning, automated field testing and whole exome sequencing of DNA extracted from saliva or blood. Outcome measures were grade of hydroxychloroquine toxicity and mutations in a panel of 40 candidate genes. Results:No susceptibility or protective factors were identified in either the cohort as a whole or any subset of patients. Conclusions and relevance:Further larger studies, with whole-exome analysis and consideration of additional modifying genes are needed.
机译：背景：羟基氯喹视网膜毒性高达7.5％的患者接受治疗;但是，可能的遗传危险因素明白很差。该研究的主要目的是探讨视网膜毒性的候选遗传危险因素。材料与方法：通过澳大利亚三级护理医院的眼科部门和澳大利亚私人眼科实践确定了证实羟基氯喹视网膜毒性毒性的病例对照研究。参与者是26名白种人羟基氯喹系号毒性，与对照组织，性别，治疗持续时间和羟基脲治疗的指示相匹配。参与者接受了临床检查，从唾液或血液中提取的DNA自动化截断扫描，自动化田间测试和整个外部exame测序。结果测量是40个候选基因面板中的羟基氯喹毒性和突变的等级。结果：在群组中没有作为整体或任何患者的任何副本鉴定易感性或保护因子。结论和相关性：进一步较大的研究，具有全面的分析和对额外改性基因的考​​虑。

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