Evidence map›Paper›PMID 38860482›Full record

ArticleMolecular genetics & genomic medicine2024

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

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

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In one paragraph

Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Hideki MatsumotoDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.ORCID https://orcid.org/0000-0002-5538-0739
Hideo SasaiDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
Norio KawamotoDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
Masato KatsuyamaRadioisotope Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Makoto MinamiyamaDepartment of Neurology, NHO Suzuka National Hospital, Suzuka, Japan.
Satoshi KuruDepartment of Neurology, NHO Suzuka National Hospital, Suzuka, Japan.
Toshiyuki FukaoDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
Hidenori OhnishiDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
SMON Research Group Members

Funding

Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan 2019-Intractable etc.(Intractable)-Designated-001Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan 2020-Intractable etc.(Intractable)-20FC2004Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan 2021-Intractable etc.(Intractable)-20FC2004Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan 2022-Intractable etc.(Intractable)-20FC2004Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan H28-Intractable etc.(Intractable)-Designated-110Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan H29-Intractable etc.(Intractable)-Designated-001Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan H30-Intractable etc.(Intractable)-Designated-003
6 · The paper itself

Abstract

backgroundSubacute 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.

methodsWe 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.

resultsThe frequencies of the loss-of-function NQO1 alleles in patients with SMON and the normal control group did not differ significantly.

conclusionWe conclude that known NQO1 polymorphisms are not associated with the development of SMON.

Indexed as

NAD(P)H Dehydrogenase (Quinone)Polymorphism, Single NucleotideAdultAgedFemaleGene FrequencyHumansJapanLoss of Function MutationMaleMiddle AgedNAD(P)H Dehydrogenase (Quinone)NQO1 protein, humanclioquinolJapaneseNQO1subacute myelo‐optico‐neuropathy

Identifiers

PMID38860482
PMCPMC11165339

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.