Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON)
Abstract Background Subacute myelo‐optico‐neuropathy (SMON) is a severe neurological disorder associated with clioquinol administration, which frequently occurred in Japan during the 1950s and 1960s. The unique genetic background of the Japanese population is considered to be strongly involved in th...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1845 |
| _version_ | 1818965005701218304 |
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| author | Hideki Matsumoto Hideo Sasai Norio Kawamoto Masato Katsuyama Makoto Minamiyama Satoshi Kuru Toshiyuki Fukao Hidenori Ohnishi SMON research group members |
| author_facet | Hideki Matsumoto Hideo Sasai Norio Kawamoto Masato Katsuyama Makoto Minamiyama Satoshi Kuru Toshiyuki Fukao Hidenori Ohnishi SMON research group members |
| author_sort | Hideki Matsumoto |
| collection | DOAJ |
| description | Abstract Background Subacute myelo‐optico‐neuropathy (SMON) is a severe neurological disorder associated with clioquinol administration, which frequently occurred in Japan during the 1950s and 1960s. The unique genetic background of the Japanese population is considered to be strongly involved in the development of this neurological disease. Recently, genetic variants of ABCC4 (OMIM: 605250) and ABCC11 (OMIM: 607040), which are particularly common in the Japanese population, were suggested as possible genetic susceptibility factors for the development of SMON. Methods We analyzed 125 Japanese SMON patients who provided consent for this study. Patient DNA was collected from peripheral blood, and genetic analysis was performed for ABCC4 rs3765534 (c.2268G>A, p.Glu857Lys) and ABCC11 rs17822931 (c.538G>A, p.Gly180Arg) polymorphisms using the Sanger sequencing method and/or TaqMan PCR method. The frequency distribution of each polymorphism was compared with that in healthy Japanese people recorded in two genomic databases (Human Genomic Variation Database and Integrative Japanese Genome Variation Database), and each genotype was compared with the clinical features of patients. Results The frequencies of ABCC4 rs3765334 and ABCC11 rs17822931 polymorphisms in SMON patients and healthy Japanese people were not significantly different in the multifaceted analysis. Conclusion We conclude that the ABCC4 rs3765334 and ABCC11 rs17822931 polymorphisms are not associated with the development of SMON. |
| first_indexed | 2024-12-20T13:10:08Z |
| format | Article |
| id | doaj.art-a9021fb27c00426580e01b32f6329e91 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-20T13:10:08Z |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-a9021fb27c00426580e01b32f6329e912022-12-21T19:39:41ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-01-01101n/an/a10.1002/mgg3.1845Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON)Hideki Matsumoto0Hideo Sasai1Norio Kawamoto2Masato Katsuyama3Makoto Minamiyama4Satoshi Kuru5Toshiyuki Fukao6Hidenori Ohnishi7SMON research group membersDepartment of Pediatrics Gifu University Graduate School of Medicine Gifu University Gifu JapanDepartment of Pediatrics Gifu University Graduate School of Medicine Gifu University Gifu JapanDepartment of Pediatrics Gifu University Graduate School of Medicine Gifu University Gifu JapanRadioisotope Center Kyoto Prefectural University of Medicine Kyoto JapanDepartment of Neurology National Hospital Organization Suzuka National Hospital Mie JapanDepartment of Neurology National Hospital Organization Suzuka National Hospital Mie JapanDepartment of Pediatrics Gifu University Graduate School of Medicine Gifu University Gifu JapanDepartment of Pediatrics Gifu University Graduate School of Medicine Gifu University Gifu JapanAbstract Background Subacute myelo‐optico‐neuropathy (SMON) is a severe neurological disorder associated with clioquinol administration, which frequently occurred in Japan during the 1950s and 1960s. The unique genetic background of the Japanese population is considered to be strongly involved in the development of this neurological disease. Recently, genetic variants of ABCC4 (OMIM: 605250) and ABCC11 (OMIM: 607040), which are particularly common in the Japanese population, were suggested as possible genetic susceptibility factors for the development of SMON. Methods We analyzed 125 Japanese SMON patients who provided consent for this study. Patient DNA was collected from peripheral blood, and genetic analysis was performed for ABCC4 rs3765534 (c.2268G>A, p.Glu857Lys) and ABCC11 rs17822931 (c.538G>A, p.Gly180Arg) polymorphisms using the Sanger sequencing method and/or TaqMan PCR method. The frequency distribution of each polymorphism was compared with that in healthy Japanese people recorded in two genomic databases (Human Genomic Variation Database and Integrative Japanese Genome Variation Database), and each genotype was compared with the clinical features of patients. Results The frequencies of ABCC4 rs3765334 and ABCC11 rs17822931 polymorphisms in SMON patients and healthy Japanese people were not significantly different in the multifaceted analysis. Conclusion We conclude that the ABCC4 rs3765334 and ABCC11 rs17822931 polymorphisms are not associated with the development of SMON.https://doi.org/10.1002/mgg3.1845ABCC11ABCC4clioquinolJapanesesubacute myelo‐optico‐neuropathy |
| spellingShingle | Hideki Matsumoto Hideo Sasai Norio Kawamoto Masato Katsuyama Makoto Minamiyama Satoshi Kuru Toshiyuki Fukao Hidenori Ohnishi SMON research group members Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) Molecular Genetics & Genomic Medicine ABCC11 ABCC4 clioquinol Japanese subacute myelo‐optico‐neuropathy |
| title | Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) |
| title_full | Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) |
| title_fullStr | Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) |
| title_full_unstemmed | Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) |
| title_short | Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) |
| title_sort | founder genetic variants of abcc4 and abcc11 in the japanese population are not associated with the development of subacute myelo optico neuropathy smon |
| topic | ABCC11 ABCC4 clioquinol Japanese subacute myelo‐optico‐neuropathy |
| url | https://doi.org/10.1002/mgg3.1845 |
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