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OICOpen Innovation Center Access Background White Black Japanese Access Menu National Cerebral and Cardiovascular Center TOP Research Institute Departments Department of Genomic Medicine Research Institute Department of Genomic Medicine   Member Director Atsushi Takahashi Staff Scientist Pei-Chieng Cha Research scientist Osamu Nakagawa Research assistant Mizuho Nakatani Visiting Scientist Mika Hori Research Our final aim is to realize precision medicine based on individual genetic information. Genetic factor is one of the risks for cardiovascular disease. We analyze the whole genome data of human by statistical genetics, statistics, and bioinformatics to identify the causative genes of diseases and construct the prediction model. We study both common and rare diseases of cardiovascular diseases by genome-wide association study(GWAS) and next generation sequencing. We also reveal the mechanisms of cardiovascular diseases not only by the genome but also by omics information such as the metabolome. We perform integrated omics analysis, which clarify relation among genome, metabolome, and phenotypes to achieve precision medicine of cardiovascular diseases by big data analysis. Publication Hori, M., Takahashi, A., Hosoda, K., Ogura, M. & Harada-Shiba, M. A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia. J Clin Endocrinol Metab 108, 422-432 (2023). Hori, M., Takahashi, A., Hosoda, K. & Harada-Shiba, M. Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing. J Clin Lipidol 16, 167-172 (2022). Naito, T., Satake, W., Cha, PC., Kobayashi, K., Murata, M., Toda, T. Comparative whole transcriptome analysis of Parkinson's disease focusing on the efficacy of zonisamide. J. Neurol. Neurosurg. Psychiatry 93(5), 509-512 (2022). Mori, J., Umemura, A., Satake, W., Cha, PC., Suzuki, Y., Itoh, K., Chiyonobu, T. TUBB3 E410K Syndrome with Childhood-Onset Nonalcoholic Steatohepatitis. J. Clin. Endocrinol. Metab. 2107(1), e38-e43 (2022). Suzuki, T., Koike, Y., Ashikawa, K., Otomo, N., Takahashi, A., Aoi, T., Kamatani, N., Nakamura, Y., Kubo, M., Kamatani, Y., Momozawa, Y., Terao, C. & Yamakawa, K. Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24. Epilepsia 62, 1391-1400 (2021). Imamura, M., Takahashi, A., Matsunami, M., Horikoshi, M., Iwata, M., Araki, S.I., Toyoda, M., Susarla, G., Ahn, J., Park, K.H., Kong, J., Moon, S., Sobrin, L., International Diabetic, R., Genetics, C., Yamauchi, T., Tobe, K., Maegawa, H., Kadowaki, T. & Maeda, S. Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes. Hum Mol Genet 30, 716-726 (2021). Koyama, S., Ito, K., Terao, C., Akiyama, M., Horikoshi, M., Momozawa, Y., Matsunaga, H., Ieki, H., Ozaki, K., Onouchi, Y., Takahashi, A., Nomura, S., Morita, H., Akazawa, H., Kim, C., Seo, J.S., Higasa, K., Iwasaki, M., Yamaji, T., Sawada, N., Tsugane, S., Koyama, T., Ikezaki, H., Takashima, N., Tanaka, K., Arisawa, K., Kuriki, K., Naito, M., Wakai, K., Suna, S., Sakata, Y., Sato, H., Hori, M., Sakata, Y., Matsuda, K., Murakami, Y., Aburatani, H., Kubo, M., Matsuda, F., Kamatani, Y. & Komuro, I. Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. Nat Genet 52, 1169-1177 (2020). Hirano, M., Satake, W., Moriyama, N., Saida, K., Okamoto, N., Cha, PC., Suzuki, Y., Kusunoki, S., Toda, T. Bardet-Biedl syndrome and related disorders in Japan. J. Hum. Genet. 65(10), 847-853 (2020). Cha, P.C., Satake, W., Ando-Kanagawa, Y., Yamamoto, K., Murata, M. & Toda, T. Genome-wide association study identifies zonisamide responsive gene in Parkinson's disease patients. J Hum Genet 65, 693-704 (2020). Matoba, N., Akiyama, M., Ishigaki, K., Kanai, M., Takahashi, A., Momozawa, Y., Ikegawa, S., Ikeda, M., Iwata, N., Hirata, M., Matsuda, K., Murakami, Y., Kubo, M., Kamatani, Y. & Okada, Y. GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits. Nat Hum Behav 4, 308-316 (2020). Hori, M., Takahashi, A., Son, C., Ogura, M. & Harada-Shiba, M. The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia. Lipids Health Dis 19, 62 (2020). Hori, M., Takahashi, A., Son, C., Ogura, M. & Harada-Shiba, M. The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln). J Clin Lipidol 14, 482-486 (2020).  last updated : 2023/10/05 (Corporate number:3120905003033) 6-1 Kishibe-Shimmachi, Suita, Osaka, 564-8565, Japan TEL：81-6-6170-1070 Access Copyright © National Cerebral and Cardiovascular Center All rights reserved. Site setting Font-size Normal Large Background White Black Japanese English