2015 Fiscal Year Annual Research Report
| Project/Area Number |
25462637
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| Research Institution | Chiba University |
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Principal Investigator |
関根 章博 千葉大学, 予防医学センター, 教授 (30425631)
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| Co-Investigator(Kenkyū-buntansha) |
岡野 高之 京都大学, 医学(系)研究科(研究院), 助教 (60642931)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | 難聴 / 大家系 / 全ゲノム解析 / 原因遺伝子 |
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| Outline of Annual Research Achievements |
家族集積があり（発症に強い遺伝要因の関与が疑われる）、家系図からは発症が優性遺伝継承で、比較的浸透率が高く、既知遺伝子診断にて原因未知と判定された難聴大家系（家系図調査：91名、試料収集可能な対象者：49名、同意取得：36名、うち罹患者：12名、うち非罹患者：24名）を収集した。問診により、難聴を自覚するのは30歳後半以降の言語習得後なので、再度、確定診断を兼ねて聴力検査を実施したところ、発症の早い血縁者では10歳代から高音域の聴力が低下しはじめていることが判明し、高齢者ではほぼ全音域の聴力が低下する進行型であることが推察される。当家系の遺伝要因を調査するため、GWAS（Genome-Wide Association Study）アレイ（Illumina社humanOmni 2.5M +exon chip）および確定診断できた血縁者の次世代シーケンサ―(Illumina社HiSeq1000)による全ゲノムシーケンス（WGS：Whole Genome Sequence >30coverages）を実施し、ゲノム全広域variation情報を取得後、①パラメトリック連鎖解析、②家系内罹患同胞対を用いたノンパラメトリック連鎖解析、③家系内（家系内罹患者vs家系内非罹患者）相関解析、④家系内罹患者vs健常者集団の相関解析を実施した。なお、GWASアレイによるvariationsについては全ての解析を実施し、①～③についてはWGSによるvariationsについて実施した。その結果、いずれの解析においても染色体13番長腕領域（3.5Mb）が候補として認められた。そこで当該領域のキャプチャーを設計し、PacBioRSⅡによる候補領域高精度シーケンスにより高い連鎖不平衡にある4座位に絞込みできた。論文化を進めるとともに、家系内では遺伝子診断が可能となったので、家系内小児・幼児の診断に向けた準備を行っている。
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Research Products
(18 results)
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[Journal Article] Mouth Breathing, another Risk Factor for Asthma: the Nagahama Study.2016
Author(s)
Yumi I, Matsumoto H, Nagasaki T, Kanemitsu Y, Murase K, Ito I, Oguma T, Muro S, Asai K, Tabara Y, Takahashi K, Bessho K, Sekine A, Kosugi S, Yamada R, Nakayama T, Matsuda F, Niimi A, Chin K, Mishima M; Nagahama Study Group.
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Journal Title
Allergy.
Volume: inpress
Pages: inpress
DOI
Peer Reviewed / Open Access
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[Journal Article] Synergistic association of elevated serum free fatty acid and glucose levels with large arterial stiffness in a general population: The Nagahama Study.2016
Author(s)
Tabara Y, Takahashi Y, Setoh K, Kawaguchi T, Gotoh N, Terao C, Yamada R, Kosugi S, Sekine A, Nakayama T, Matsuda F; Nagahama Study group.
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Journal Title
Metabolism.
Volume: 65
Pages: 66-72
DOI
Peer Reviewed / Open Access
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[Journal Article] Japan Pharmacogenomics Data Science Consortium. Development of a simple genotyping method for the HLA-A*31:01-tagging SNP in Japanese.2015
Author(s)
Maekawa K, Nakamura R, Kaniwa N, Mizusawa S, Kitamoto A, Kitamoto T, Ukaji M, Matsuzawa Y, Sugiyama E, Uchida Y, Kurose K, Ueta M, Sotozono C, Ikeda H, Yagami A, Matsukura S, Kinoshita S, Muramatsu M, Ikezawa Z, Sekine A, Furuya H, Takahashi Y, Matsunaga K, Aihara M, Saito Y
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Journal Title
Pharmacogenomics.
Volume: 16
Pages: 1689-1699
DOI
Peer Reviewed / Open Access
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[Journal Article] Knee Pain and Low Back Pain Additively Disturb Sleep in the General Population: A Cross-Sectional Analysis of the Nagahama Study.2015
Author(s)
Murase K, Tabara Y, Ito H, Kobayashi M, Takahashi Y, Setoh K, Kawaguchi T, Muro S, Kadotani H, Kosugi S, Sekine A, Yamada R, Nakayama T, Mishima M, Matsuda S, Matsuda F, Chin K
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Journal Title
PLoS One.
Volume: 10
Pages: e0140058.
DOI
Peer Reviewed / Open Access
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[Journal Article] Descriptive epidemiology of spot urine sodium-to-potassium ratio clarified close relationship with blood pressure level: the Nagahama study.2015
Author(s)
Tabara Y, Takahashi Y, Kumagai K, Setoh K, Kawaguchi T, Takahashi M, Muraoka Y, Tsujikawa A, Gotoh N, Terao C, Yamada R, Kosugi S, Sekine A, Yoshimura N, Nakayama T, Matsuda F; Nagahama study group.
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Journal Title
J Hypertens.
Volume: 33
Pages: 2407-2413
DOI
Peer Reviewed / Open Access
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[Journal Article] Nagahama Cohort MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration. Research Group.2015
Author(s)
Akagi-Kurashige Y, Yamashiro K, Gotoh N, Miyake M, Morooka S, Yoshikawa M, Nakata I, Kumagai K, Tsujikawa A, Yamada R, Matsuda F, Saito M, Iida T, Sugahara M, Kurimoto Y, Cheng CY, Khor CC, Wong TY, Yoshimura N
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Journal Title
Ophthalmology.
Volume: 122
Pages: 2295-2302
DOI
Peer Reviewed / Open Access
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[Journal Article] Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.2015
Author(s)
Setoh K, Terao C, Muro S, Kawaguchi T, Tabara Y, Takahashi M, Nakayama T, Kosugi S, Sekine A, Yamada R, Mishima M, Matsuda F
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Journal Title
Nat Commun.
Volume: 6
Pages: 7754
DOI
Peer Reviewed / Open Access
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[Journal Article] Significant association of periodontal disease with anti-citrullinated peptide antibody in a Japanese healthy population - The Nagahama study.2015
Author(s)
Terao C, Asai K, Hashimoto M, Yamazaki T, Ohmura K, Yamaguchi A, Takahashi K, Takei N, Ishii T, Kawaguchi T, Tabara Y, Takahashi M, Nakayama T, Kosugi S, Sekine A, Fujii T, Yamada R, Mimori T, Matsuda F, Bessho K; Nagahama Study Group.
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Journal Title
J Autoimmun.
Volume: 59
Pages: 85-90
DOI
Peer Reviewed / Open Access
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[Journal Article] Nagahama Study Group. Calcium, ARMS2 genotype, and Chlamydia pneumoniae infection in early age-related macular degeneration: a multivariate analysis from the Nagahama study.2015
Author(s)
Nakata I, Yamashiro K, Kawaguchi T, Nakanishi H, Akagi-Kurashige Y, Miyake M, Tsujikawa A, Yamada R, Matsuda F, Yoshimura N
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Journal Title
Sci Rep.
Volume: 5
Pages: 9345
DOI
Peer Reviewed / Open Access
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[Journal Article] IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement.2015
Author(s)
Ueta M, Sawai H, Sotozono C, Hitomi Y, Kaniwa N, Kim MK, Seo KY, Yoon KC, Joo CK, Kannabiran C, Wakamatsu TH, Sangwan V, Rathi V, Basu S, Ozeki T, Mushiroda T, Sugiyama E, Maekawa K, Nakamura R, Aihara M, Matsunaga K, Sekine A, Gomes JA, Hamuro J, Saito Y, Kubo M, Kinoshita S, Tokunaga K
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Journal Title
J Allergy Clin Immunol.
Volume: 135
Pages: 1538-1545
DOI
Peer Reviewed / Open Access
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[Journal Article] Central blood pressure relates more strongly to retinal arteriolar narrowing than brachial blood pressure: the Nagahama Study.2015
Author(s)
Kumagai K, Tabara Y, Yamashiro K, Miyake M, Akagi-Kurashige Y, Oishi M, Yoshikawa M, Kimura Y, Tsujikawa A, Takahashi Y, Setoh K, Kawaguchi T, Terao C, Yamada R, Kosugi S, Sekine A, Nakayama T, Matsuda F, Yoshimura N; Nagahama Study group.
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Journal Title
J Hypertens.
Volume: 33
Pages: 323-329
DOI
Peer Reviewed / Open Access
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