Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
Japanese
NQO1
clioquinol
subacute myelo‐optico‐neuropathy
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
Jun 2024
Jun 2024
Historique:
revised:
17
04
2024
received:
15
01
2024
accepted:
14
05
2024
medline:
11
6
2024
pubmed:
11
6
2024
entrez:
11
6
2024
Statut:
ppublish
Résumé
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. 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. The frequencies of the loss-of-function NQO1 alleles in patients with SMON and the normal control group did not differ significantly. We conclude that known NQO1 polymorphisms are not associated with the development of SMON.
Sections du résumé
BACKGROUND
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
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
RESULTS
The frequencies of the loss-of-function NQO1 alleles in patients with SMON and the normal control group did not differ significantly.
CONCLUSION
CONCLUSIONS
We conclude that known NQO1 polymorphisms are not associated with the development of SMON.
Substances chimiques
NAD(P)H Dehydrogenase (Quinone)
EC 1.6.5.2
NQO1 protein, human
EC 1.6.5.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2470Subventions
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : H28-Intractable etc.(Intractable)-Designated-110
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : H29-Intractable etc.(Intractable)-Designated-001
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : H30-Intractable etc.(Intractable)-Designated-003
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : 2019-Intractable etc.(Intractable)-Designated-001
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : 2020-Intractable etc.(Intractable)-20FC2004
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : 2021-Intractable etc.(Intractable)-20FC2004
Organisme : Health and Labour Sciences Research Grant for Research on Intractable Diseases from The Ministry of Health, Labour and Welfare, Japan
ID : 2022-Intractable etc.(Intractable)-20FC2004
Informations de copyright
© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
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