Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-06-01 DOI:10.1002/mgg3.2470

Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi

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Abstract

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.

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NQO1 的功能缺失多态性与亚急性骨髓视神经病变的发生无关。

背景：亚急性骨髓视神经病变（SMON）是一种与服用氯喹诺酮（尤其是超大剂量）有关的神经系统疾病。虽然氯喹诺酮已在全球范围内使用，但在 20 世纪 50 年代至 70 年代期间，SMON 在日本爆发，其中大多数病例发生在日本，这促使人们猜测日本人独特的遗传背景可能是 SMON 的发病原因。最近，有报道称 NQO1 功能缺失多态性与 SMON 的发生可能存在关联。本研究分析了日本 NQO1 多态性与 SMON 的关系：我们分析了 125 名日本 SMON 患者。评估了 NQO1 功能缺失多态性（rs1800566、rs10517、rs689452 和 rs689456）。比较了患者与健康日本人（人类基因组变异数据库和日本基因组变异综合数据库）以及本公司健康对照组之间每种多态性的等位基因频率分布：结果：SMON 患者和正常对照组的功能缺失 NQO1 等位基因频率没有显著差异：我们得出结论：已知的 NQO1 多态性与 SMON 的发病无关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.