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Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population
BACKGROUND: Bipolar disorder (BD) and schizophrenia (SZ) are complex psychotic disorders (PSY), with both environmental and genetic factors including possible maternal inheritance playing a role. Some studies have investigated whether genetic variants in the mitochondrial chromosome are associated w...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10361950/ https://www.ncbi.nlm.nih.gov/pubmed/37477801 http://dx.doi.org/10.1186/s40345-023-00307-6 |
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author | Tachi, Ryobu Ohi, Kazutaka Nishizawa, Daisuke Soda, Midori Fujikane, Daisuke Hasegawa, Junko Kuramitsu, Ayumi Takai, Kentaro Muto, Yukimasa Sugiyama, Shunsuke Kitaichi, Kiyoyuki Hashimoto, Ryota Ikeda, Kazutaka Shioiri, Toshiki |
author_facet | Tachi, Ryobu Ohi, Kazutaka Nishizawa, Daisuke Soda, Midori Fujikane, Daisuke Hasegawa, Junko Kuramitsu, Ayumi Takai, Kentaro Muto, Yukimasa Sugiyama, Shunsuke Kitaichi, Kiyoyuki Hashimoto, Ryota Ikeda, Kazutaka Shioiri, Toshiki |
author_sort | Tachi, Ryobu |
collection | PubMed |
description | BACKGROUND: Bipolar disorder (BD) and schizophrenia (SZ) are complex psychotic disorders (PSY), with both environmental and genetic factors including possible maternal inheritance playing a role. Some studies have investigated whether genetic variants in the mitochondrial chromosome are associated with BD and SZ. However, the genetic variants identified as being associated are not identical among studies, and the participants were limited to individuals of European ancestry. Here, we investigate associations of genome-wide genetic variants in the mitochondrial chromosome with BD, SZ, and PSY in a Japanese population. METHODS: After performing quality control for individuals and genetic variants, we investigated whether mitochondrial genetic variants [minor allele frequency (MAF) > 0.01, n = 45 variants) are associated with BD, SZ, and PSY in 420 Japanese individuals consisting of patients with BD (n = 51), patients with SZ (n = 172), and healthy controls (HCs, n = 197). RESULTS: Of mitochondrial genetic variants, three (rs200478835, rs200044200 and rs28359178 on or near NADH dehydrogenase) and one (rs200478835) were significantly associated with BD and PSY, respectively, even after correcting for multiple comparisons (P(GC)=0.045–4.9 × 10(− 3)). In particular, individuals with the minor G-allele of rs200044200, a missense variant, were only observed among patients with BD (MAF = 0.059) but not HCs (MAF = 0) (odds ratio=∞). Three patients commonly had neuropsychiatric family histories. CONCLUSIONS: We suggest that mitochondrial genetic variants in NADH dehydrogenase-related genes may contribute to the pathogenesis of BD and PSY in the Japanese population through dysfunction of energy production. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40345-023-00307-6. |
format | Online Article Text |
id | pubmed-10361950 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-103619502023-07-23 Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population Tachi, Ryobu Ohi, Kazutaka Nishizawa, Daisuke Soda, Midori Fujikane, Daisuke Hasegawa, Junko Kuramitsu, Ayumi Takai, Kentaro Muto, Yukimasa Sugiyama, Shunsuke Kitaichi, Kiyoyuki Hashimoto, Ryota Ikeda, Kazutaka Shioiri, Toshiki Int J Bipolar Disord Research BACKGROUND: Bipolar disorder (BD) and schizophrenia (SZ) are complex psychotic disorders (PSY), with both environmental and genetic factors including possible maternal inheritance playing a role. Some studies have investigated whether genetic variants in the mitochondrial chromosome are associated with BD and SZ. However, the genetic variants identified as being associated are not identical among studies, and the participants were limited to individuals of European ancestry. Here, we investigate associations of genome-wide genetic variants in the mitochondrial chromosome with BD, SZ, and PSY in a Japanese population. METHODS: After performing quality control for individuals and genetic variants, we investigated whether mitochondrial genetic variants [minor allele frequency (MAF) > 0.01, n = 45 variants) are associated with BD, SZ, and PSY in 420 Japanese individuals consisting of patients with BD (n = 51), patients with SZ (n = 172), and healthy controls (HCs, n = 197). RESULTS: Of mitochondrial genetic variants, three (rs200478835, rs200044200 and rs28359178 on or near NADH dehydrogenase) and one (rs200478835) were significantly associated with BD and PSY, respectively, even after correcting for multiple comparisons (P(GC)=0.045–4.9 × 10(− 3)). In particular, individuals with the minor G-allele of rs200044200, a missense variant, were only observed among patients with BD (MAF = 0.059) but not HCs (MAF = 0) (odds ratio=∞). Three patients commonly had neuropsychiatric family histories. CONCLUSIONS: We suggest that mitochondrial genetic variants in NADH dehydrogenase-related genes may contribute to the pathogenesis of BD and PSY in the Japanese population through dysfunction of energy production. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40345-023-00307-6. Springer Berlin Heidelberg 2023-07-21 /pmc/articles/PMC10361950/ /pubmed/37477801 http://dx.doi.org/10.1186/s40345-023-00307-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Research Tachi, Ryobu Ohi, Kazutaka Nishizawa, Daisuke Soda, Midori Fujikane, Daisuke Hasegawa, Junko Kuramitsu, Ayumi Takai, Kentaro Muto, Yukimasa Sugiyama, Shunsuke Kitaichi, Kiyoyuki Hashimoto, Ryota Ikeda, Kazutaka Shioiri, Toshiki Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population |
title | Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population |
title_full | Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population |
title_fullStr | Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population |
title_full_unstemmed | Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population |
title_short | Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population |
title_sort | mitochondrial genetic variants associated with bipolar disorder and schizophrenia in a japanese population |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10361950/ https://www.ncbi.nlm.nih.gov/pubmed/37477801 http://dx.doi.org/10.1186/s40345-023-00307-6 |
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