NQO1 基因失活多态性与亚急性脊髓视神经病的发生无关。
Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
机构信息
Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
出版信息
Mol Genet Genomic Med. 2024 Jun;12(6):e2470. doi: 10.1002/mgg3.2470.
BACKGROUND
Subacute myelo-optico-neuropathy (SMON) is a neurological disorder associated with the administration of clioquinol, particularly at very high doses. Although clioquinol has been used worldwide, there was an outbreak of SMON in the 1950s-1970s in which the majority of cases were in Japan, prompting speculation that the unique genetic background of the Japanese population may have contributed to the development of SMON. Recently, a possible association between loss-of-function polymorphisms in NQO1 and the development of SMON has been reported. In this study, we analyzed the relationship between NQO1 polymorphisms and SMON in Japan.
METHODS
We analyzed 125 Japanese patients with SMON. NQO1 loss-of-function polymorphisms (rs1800566, rs10517, rs689452, and rs689456) were evaluated. The allele frequency distribution of each polymorphism was compared between the patients and the healthy Japanese individuals (Human Genomic Variation Database and Integrative Japanese Genome Variation Database), as well as our in-house healthy controls.
RESULTS
The frequencies of the loss-of-function NQO1 alleles in patients with SMON and the normal control group did not differ significantly.
CONCLUSION
We conclude that known NQO1 polymorphisms are not associated with the development of SMON.
背景
亚急性脊髓视神经病（SMON）是一种与氯碘喹啉给药相关的神经系统疾病，尤其是在极高剂量下。尽管氯碘喹啉已在全球范围内使用，但在 20 世纪 50 年代至 70 年代，日本曾爆发过 SMON，大多数病例都发生在日本，这引发了人们的猜测，即日本人群独特的遗传背景可能促成了 SMON 的发生。最近，有报道称 NQO1 基因失活多态性与 SMON 的发生之间可能存在关联。在本研究中，我们分析了 NQO1 多态性与日本 SMON 之间的关系。
方法
我们分析了 125 例日本 SMON 患者。评估了 NQO1 基因失活多态性（rs1800566、rs10517、rs689452 和 rs689456）。比较了每位患者和健康的日本个体（人类基因组变异数据库和综合日本基因组变异数据库）以及我们内部的健康对照组中每种多态性的等位基因频率分布。
结果
SMON 患者和正常对照组中失活 NQO1 等位基因的频率无显著差异。
结论
我们得出结论，已知的 NQO1 多态性与 SMON 的发生无关。
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