Article
Multidisciplinary Sciences
Marina Penova, Shuji Kawaguchi, Jun-ichirou Yasunaga, Takahisa Kawaguchi, Tomoo Sato, Meiko Takahashi, Masakazu Shimizu, Mineki Saito, Kunihiro Tsukasaki, Masanori Nakagawa, Norihiro Takenouchi, Hideo Hara, Eiji Matsuura, Satoshi Nozuma, Hiroshi Takashima, Shuji Izumo, Toshiki Watanabe, Kaoru Uchimaru, Masako Iwanaga, Atae Utsunomiya, Yasuharu Tabara, Richard Paul, Yoshihisa Yamano, Masao Matsuoka, Fumihiko Matsuda
Summary: This study identified strong associations in HLA class I and class II loci with HAM/TSP, with specific alleles like HLAC*07:02, HLA-B*07:02, HLA-DRB1*01:01, and HLA-DQB1*05:01 related to disease risk. Conversely, alleles like HLA-B*40:06, HLA-DRB1*15:01, and HLA-DQB1*06:02 were found to be protective. The amino acid residue DRB1-GB-7-Leu was identified as a genetic risk factor for HAM/TSP development independently of proviral load, serving as a specific marker for disease risk.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Toshimitsu Suzuki, Yoshinao Koike, Kyota Ashikawa, Nao Otomo, Atsushi Takahashi, Tomomi Aoi, Naoyuki Kamatani, Yusuke Nakamura, Michiaki Kubo, Yoichiro Kamatani, Yukihide Momozawa, Chikashi Terao, Kazuhiro Yamakawa
Summary: Through a genome-wide association study on a Japanese population, a novel region on chromosome 12q24 was identified as a risk factor for epilepsy. This region harbors multiple transcripts including genes expressed in the brain, and the associated SNPs are correlated with differential expression of genes at 12q24. These findings suggest a contribution of genes in this region to the pathology of epilepsy in the Japanese population.
Article
Plant Sciences
Sogo Nishio, Takeshi Hayashi, Kenta Shirasawa, Toshihiro Saito, Shingo Terakami, Norio Takada, Yukie Takeuchi, Shigeki Moriya, Akihiko Itai
Summary: This study identified 56 SNPs associated with fruit traits through genome-wide association studies. New loci related to individual sugar accumulation were discovered, and candidate genes for the underlying QTLs were inferred using apple genome information. Genomic selection accuracy for sucrose, fructose, and glucose was relatively high, indicating the potential to select individuals with desired sugar contents.
Article
Urology & Nephrology
Ying-Chun Chen, Henry Sung-Ching Wong, Mei-Yi Wu, Wan-Hsuan Chou, Chih-Chin Kao, Ching-Hsuan Chao, Wei-Chiao Chang, Mai-Szu Wu
Summary: This study identified four susceptibility loci associated with kidney-related traits in a Taiwanese population, with 22q13.2 and 3q29 prioritized as critical candidates.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Haijie Song, Wenting Li, Yuanfang Li, Bin Zhai, Yujie Guo, Yi Chen, Ruili Han, Guirong Sun, Ruirui Jiang, Zhuanjian Li, Fengbin Yan, Guoxi Li, Xiaojun Liu, Yanhua Zhang, Yadong Tian, Xiangtao Kang
Summary: In this study, a genome-wide association study (GWAS) was conducted to identify genetic variations associated with serum biochemical indicators in chickens. A total of 236 single-nucleotide polymorphisms (SNPs) on 9 chicken chromosomes were found to be significantly associated with eight serum biochemical indicators. Additionally, ten novel quantitative trait loci (QTLs) were identified for these serum biochemical indicators. Literature mining also revealed potential candidate genes for these traits.
Article
Dentistry, Oral Surgery & Medicine
Liwen Fan, Lan Ma, Guirong Zhu, Siyue Yao, Xiaofeng Li, Xin Yu, Yongchu Pan, Lin Wang
Summary: Our GWAS study identified chromosome 2 variants, including rs147680216, as well as three novel susceptibility loci, associated with the risk of premolar agenesis in the Chinese population.
Article
Nutrition & Dietetics
Taro Suzuki, Yasuyuki Nakamura, Yukio Doi, Akira Narita, Atsushi Shimizu, Nahomi Imaeda, Chiho Goto, Kenji Matsui, Aya Kadota, Katsuyuki Miura, Masahiro Nakatochi, Keitaro Tanaka, Megumi Hara, Hiroaki Ikezaki, Masayuki Murata, Toshiro Takezaki, Daisaku Nishimoto, Keitaro Matsuo, Isao Oze, Nagato Kuriyama, Etsuko Ozaki, Haruo Mikami, Yohko Nakamura, Miki Watanabe, Sadao Suzuki, Sakurako Katsuura-Kamano, Kokichi Arisawa, Kiyonori Kuriki, Yukihide Momozawa, Michiaki Kubo, Kenji Takeuchi, Yoshikuni Kita, Kenji Wakai
Summary: Genetic variations within sweet taste receptor genes were found to be associated with confection consumption in a Japanese population in a genome-wide association study. Specifically, 418 SNPs located on 12q24 genes were identified to be associated with confections intake, but these associations lost statistical significance after adjusting for alcohol intake.
BRITISH JOURNAL OF NUTRITION
(2021)
Article
Dermatology
Ryosuke Okuno, Yu Inoue, Yuichi Hasebe, Toshio Igarashi, Mika Kawagishi-Hotta, Takaaki Yamada, Seiji Hasegawa
Summary: The epidermis is a vital organ that serves as a protective barrier and regulates water retention. Aging, ultraviolet damage, and genetic factors can affect epidermal turnover. This study identified a genetic variant, rs2278431, in the 19q13.2 region that is associated with the rate of corneocyte shedding, which is indicative of epidermal turnover. The variant appears to affect the expression of the SPINT2 gene, which is involved in keratinocyte proliferation and corneocyte size regulation.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Genetics & Heredity
Peiqi Wang, Xinghan Sun, Qiang Miao, Hao Mi, Minyuan Cao, Shan Zhao, Yiyi Wang, Yang Shu, Wei Li, Heng Xu, Ding Bai, Yan Zhang
Summary: This study investigated the genetic predispositions of aesthetic facial traits in the Chinese population. Several novel genetic associations were identified, and functional annotation and polygenic scores were used to understand the genetic basis of these traits.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Kotomi Tanida, Mihoko Shimada, Seik-Soon Khor, Hiromi Toyoda, Kayoko Kato, Nozomu Kotorii, Tatayu Kotorii, Yu Ariyoshi, Takao Kato, Hiroshi Hiejima, Motohiro Ozone, Naohisa Uchimura, Azusa Ikegami, Kazuhiko Kume, Takashi Kanbayashi, Aya Imanishi, Yuichi Kamei, Akiko Hida, Yamato Wada, Kenji Kuroda, Masayuki Miyamoto, Koichi Hirata, Masanori Takami, Naoto Yamada, Masako Okawa, Naoto Omata, Hideaki Kondo, Tohru Kodama, Yuichi Inoue, Kazuo Mishima, Makoto Honda, Katsushi Tokunaga, Taku Miyagawa
Summary: Idiopathic hypersomnia (IH) is a rare sleep disorder with unknown etiology, distinct from narcolepsy type 1. A genome-wide association study identified candidate genetic variants associated with IH, including rs2250870 in the PDE9A gene. PDE9A may be a potential target for the treatment of IH.
SLEEP AND BIOLOGICAL RHYTHMS
(2022)
Article
Medicine, Research & Experimental
Ching-Lung Ko, Wei-Zhi Lin, Meng-Ting Lee, Yu-Tien Chang, Hung-Che Lin, Yi-Syuan Wu, Jun-Fu Lin, Ke-Ting Pan, Yu-Chuan Chang, Ko-Han Lee, Yi-Lun Lee, Tsung-Ting Hsieh, Jia-Hsin Huang, Chih-Hung Wang, Sung-Sen Yang, Hsiang-Cheng Chen, Chi-Ming Chu
Summary: This study explored the race-specific SNP susceptibility of AS in Taiwanese individuals and found an association between HLA-B27 and AS susceptibility SNPs. The study also found differences in AS SNPs between Taiwanese individuals and other races, and that Taiwanese individuals with HLA-B27 positivity had a higher proportion of minor alleles. Additionally, AS polygenic risk score models were developed and individuals with high polygenic risk had a fivefold increased risk of developing AS.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Immunology
Shou-En Wu, Wei Liang Chen
Summary: The study investigated sarcopenia-related SNPs in Asian older adults and created a genotype score to test the combined effect of these SNPs on sarcopenia risk. Results revealed significant associations between SNPs and sarcopenic indices, with higher genotype scores linked to increased sarcopenia risk.
JOURNAL OF INFLAMMATION RESEARCH
(2021)
Article
Genetics & Heredity
Huiyu Wang, Xiaoyi Wang, Mingli Li, Hao Sun, Qiang Chen, Dawei Yan, Xinxing Dong, Yuchun Pan, Shaoxiong Lu
Summary: This study conducted a genome-wide association study using SLAF-seq technology to identify candidate genes and novel QTLs related to growth traits in pigs, revealing the genetic mechanisms underlying pig growth traits and providing a biological basis for improving pig growth and production performance.
Article
Multidisciplinary Sciences
Matteo Sesia, Stephen Bates, Emmanuel Candes, Jonathan Marchini, Chiara Sabatti
Summary: The study introduces a comprehensive statistical framework for analyzing data from genome-wide association studies of polygenic traits, demonstrating validity and effectiveness through simulations and applications to the UK Biobank data. The method outperforms state-of-the-art alternatives and is supported by comparisons with other studies, offering researchers fast software for analyzing Biobank-scale datasets.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Baihan Wang, Olga Giannakopoulou, Isabelle Austin-Zimmerman, Haritz Irizar, Jasmine Harju-Seppanen, Eirini Zartaloudi, Anjali Bhat, Andrew McQuillin, Karoline Kuchenbacker, Elvira Bramon
Summary: Verbal memory impairment is a significant cognitive deficit in psychosis, and a GWAS conducted on a diverse population of American adolescents found two novel genome-wide significant associations related to verbal memory. Genetic correlations with schizophrenia were also found, supporting verbal memory as an endophenotype for psychosis.
Article
Clinical Neurology
Janos L. Kalman, Tomoya Yoshida, Till F. M. Andlauer, Eva C. Schulte, Kristina Adorjan, Martin Alda, Raffaela Ardau, Jean-Michel Aubry, Katharina Brosch, Monika Budde, Caterina Chillotti, Piotr M. Czerski, Raymond J. DePaulo, Andreas Forstner, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Dominik Grotegerd, Tim Hahn, Maria Heilbronner, Roland Hasler, Urs Heilbronner, Stefanie Heilmann-Heimbach, Pawel Kapelski, Tadafumi Kato, Mojtaba Oraki Kohshour, Susanne Meinert, Tina Meller, Igor Nenadic, Markus M. Nothen, Tomas Novak, Nils Opel, Joanna Pawlak, Julia-Katharina Pfarr, James B. Potash, Daniela Reich-Erkelenz, Jonathan Repple, Helene Richard-Lepouriel, Marcella Rietschel, Kai G. Ringwald, Guy Rouleau, Sabrina Schaupp, Fanny Senner, Giovanni Severino, Alessio Squassina, Frederike Stein, Pavla Stopkova, Fabian Streit, Katharina Thiel, Florian Thomas-Odenthal, Gustavo Turecki, Joanna Twarowska-Hauser, Alexandra Winter, Peter P. Zandi, John R. Kelsoe, Peter Falkai, Udo Dannlowski, Tilo Kircher, Thomas G. Schulze, Sergi Papiol
Summary: Personality traits have an influence on the risk of suicidal behavior. This study examined the associations between the Big Five personality traits and suicidal ideation and attempts in patients with major depressive disorder, bipolar disorder, schizoaffective disorder, and schizophrenia. The findings suggest that higher neuroticism and lower extraversion scores are associated with a higher likelihood of reporting suicidal ideation, but there is no significant genetic association with polygenic load for these personality traits. This study provides new insights into the link between personality and suicidal behavior across different mental illnesses.
EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
(2022)
Article
Clinical Neurology
Yuki Kageyama, Yasuhiko Deguchi, Takaoki Kasahara, Munehide Tani, Kenji Kuroda, Koki Inoue, Tadafumi Kato
Summary: Patients with bipolar disorder have elevated plasma IL-6 levels, higher in depressed patients than in remitted patients. However, the study did not find a significant difference in plasma circulating cell-free mitochondrial DNA levels between depressed and remitted BD patients.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Article
Multidisciplinary Sciences
Youhei Obata, Mie Kubota-Sakashita, Takaoki Kasahara, Masafumi Mizuno, Takahiro Nemoto, Tadafumi Kato
Summary: This study found that monoamine oxidase B (MAO-B) is responsible for the degradation of phenethylamine (PEA) in a specific region of the brain (PVT). Experimental results using knockout mice suggest that the lack of MAO-B leads to a significant accumulation of PEA in the PVT.
SCIENTIFIC REPORTS
(2022)
Article
Psychiatry
Kenji Baba, Wenjia Guo, Yirong Chen, Tadashi Nosaka, Tadafumi Kato
Summary: Comorbid conditions among patients with schizophrenia significantly impact their quality of life, work productivity, and indirect costs.
Review
Clinical Neurology
Aran Tajika, Hikaru Hori, Jun-ichi Iga, Yosuke Koshikawa, Haruhiko Ogata, Yusuke Ogawa, Koichiro Watanabe, Tadafumi Kato, Koji Matsuo, Masaki Kato
Summary: Existing meta-analytic evidence suggests that augmentation therapy is more effective than monotherapy in the treatment of bipolar mania. Significant improvement can be observed as early as the first week, and the effectiveness continues for up to 6 weeks. However, attention to side effects is necessary.
INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
(2022)
Letter
Clinical Neurology
Takeo Saito, Masashi Ikeda, Chikashi Terao, Takuma Ashizawa, Masami Miyata, Satoshi Tanaka, Tetsufumi Kanazawa, Tadafumi Kato, Taro Kishi, Nakao Iwata
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2023)
Editorial Material
Clinical Neurology
Hidehiko Takahashi, Tadafumi Kato
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2023)
Article
Neurosciences
Taro Kishi, Hiroshi Nakamura, Tadafumi Kato, Nakao Iwata
Summary: A study investigated the relationship between early improvement and later responses in adults with bipolar depression treated with lurasidone. The results showed that early improvement at Week 2 does not strongly predict poor improvement at Week 6. Some patients who did not show early response at 2 weeks might still have marked improvement at 6 weeks.
NEUROPSYCHOPHARMACOLOGY REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Hirona Yamamoto, Hyeon-Cheol Lee-Okada, Masashi Ikeda, Takumi Nakamura, Takeo Saito, Atsushi Takata, Takehiko Yokomizo, Nakao Iwata, Tadafumi Kato, Takaoki Kasahara
Summary: Large-scale genome-wide association studies have shown that the fatty acid desaturase (FADS) locus is implicated in bipolar disorder. To investigate this further, mutant mice lacking Fads1/2 genes were generated. These mice exhibited bipolar swings in activity, accompanied by abnormal circadian rhythms and altered lipid composition in the brain. Supplementation with certain fatty acids prevented the episodic behavioral changes. This study provides a GWAS-based model to understand the involvement of lipids and their metabolisms in the pathogenesis and treatment of bipolar disorder.
MOLECULAR PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Masaki Nishioka, Jun Takayama, Naomi Sakai, An-a Kazuno, Mizuho Ishiwata, Junko Ueda, Takashi Hayama, Kumiko Fujii, Toshiyuki Someya, Shinichi Kuriyama, Gen Tamiya, Atsushi Takata, Tadafumi Kato
Summary: This study identified new genetic variants in individuals with bipolar disorder (BD) that may contribute to the development of BD. Additionally, the presence of heteroplasmic mitochondrial gene variants was observed in BD patients. These findings provide valuable insights into the genetic architecture of BD and the role of mosaic variants in human diseases.
MOLECULAR PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Kate Merritt, Robert McCutcheon, Andre Aleman, Sarah Ashley, Katherine Beck, Wolfgang Block, Oswald J. N. Bloemen, Faith Borgan, Christiana Boules, Juan R. Bustillo, Aristides Capizzano, Jennifer Q. Coughlin, Anthony David, Camilo de la Fuente-Sandoval, Arsime Demjaha, Kara Dempster, Kim Do, Fei E. Du, Peter Falkai, Beata Galinska-Skok, Juergen Gallinat, Charles Gasparovic, Cedric E. Ginestet, Naoki Goto, Ariel Graff-Guerrero, Beng-Choon Ho, Oliver Howes, Sameer Jauhar, Peter Jeon, Tadafumi Kato, Charles A. Kaufmann, Lawrence S. Kegeles, Matcheri S. Keshavan, Sang-Young Kim, Bridget King, Hiroshi Kunugi, J. Lauriello, Pablo Leon-Ortiz, Edith Liemburg, Meghan Mcilwain, Gemma Modinos, Elias Mouchlianitis, Jun Nakamura, Igor Nenadic, Dost Ongur, Miho Ota, Lena E. Palaniyappan, Christos Pantelis, Tulsi F. Patel, Eric Plitman, Sotirios R. Posporelis, Scot Purdon, Juergen R. Reichenbach, Perry C. Renshaw, Francisco Reyes-Madrigal, Bruce A. Russell, Akira Sawa, Martin Schaefer, Dikoma C. Shungu, Stefan Smesny, Jeffrey Stanley, James G. Stone, Agata Szulc, Reggie Taylor, Katharine N. Thakkar, Jean J. Theberge, Philip Tibbo, Therese van Amelsvoort, Jerzy Walecki, Peter Williamson, Stephen Wood, Lijing Xin, Hidenori Yamasue, Philip K. McGuire, Alice Egerton
Summary: This study conducted meta-analyses and found that patients with schizophrenia have greater variability in glutamate metabolites compared to controls in various brain regions, and age and symptoms also influence individual variability.
MOLECULAR PSYCHIATRY
(2023)
Article
Neurosciences
Risa Watanabe, Yutaka Nakachi, Hikari Matsubara, Junko Ueda, Takao Ishii, Wataru Ukai, Eri Hashimoto, Kiyoto Kasai, Siro Simizu, Tadafumi Kato, Miki Bundo, Kazuya Iwamoto
Summary: This study discovered the epigenetic status of L1 promoters in adult brain cells and their relationship with psychiatric disorders. The results suggest that altered epigenetic regulation of L1 5'UTR in the brain may be involved in the pathophysiology of psychiatric disorders.
NEUROSCIENCE RESEARCH
(2023)
Article
Neurosciences
Shinya Fujii, Yui Murata, Yuko Imamura, Yutaka Nakachi, Miki Bundo, Mie Kubota-Sakashita, Tadafumi Kato, Kazuya Iwamoto
Summary: Maternal immune activation is an environmental risk factor for the development of psychiatric disorders in offspring. The presence of segment filamentous bacteria (SFB) in the maternal intestine has been found to be important for inducing ASD-related behavioral alterations and atypical cortical development. This study investigated the effect of a single poly(I:C) injection on offspring behavior in the absence of maternal SFB. The results showed that behavioral alterations could be induced without maternal SFB and the effect on behavior differed significantly between males and females.
NEUROSCIENCE LETTERS
(2023)
Article
Cell Biology
Yasuyuki Shima, Henrik Skibbe, Yohei Sasagawa, Noriko Fujimori, Yoshimi Iwayama, Ayako Isomura-Matoba, Minoru Yano, Takumi Ichikawa, Itoshi Nikaido, Nobutaka Hattori, Tadafumi Kato
Summary: This study used single-cell RNA sequencing to investigate the transcriptomic characteristics of mouse PVT neurons and found significant anterior-posterior differences in the PVT transcriptome. While classifying PVT neurons into five types based on single-cell transcriptome, the study revealed continuity among the cell types through transcriptomic and histological analyses. In addition, different subpopulations of PVT neurons responded differently to appetite-related neuropeptides, with opposing effects on food consumption.
Correction
Biochemistry & Molecular Biology
Kazuo Nakajima, Mizuho Ishiwata, Adam Z. Weitemier, Hirotaka Shoji, Hiromu Monai, Hiroyuki Miyamoto, Kazuhiro Yamakawa, Tsuyoshi Miyakawa, Thomas J. McHugh, Tadafumi Kato
HUMAN MOLECULAR GENETICS
(2023)