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Objective We aim to examine the association of the two genes with Japanese sporadic PTC, which exhibits high BRAF(V600E) mutation rate. Methods 507 Japanese sporadic PTC cases and 2766 controls were genotyped for rs965513 (FOXE1) and rs944289 (NKX2-1). PTC cases were also examined for their BRAF(V600E) mutational status. Results The association of both rs965513 (p=1.27×10(-4), OR=1.69, 95% CI 1.29 to 2.21) and rs944289 (p=0.0121, OR=1.21, 95% CI 1.04 to 1.39) with the risk of sporadic PTC was confirmed. Subgroup analysis based on the BRAF mutational status showed strong association of rs965513 with BRAF(V600E)-positive cases (p=2.26×10(-4), OR=1.72, 95% CI 1.29 to 2.29), but not with BRAF(V600E)-negative cases (p=0.143, OR=1.52, 95% CI 0.87 to 2.65). However, there was no difference in the observed effect size between both subgroups. For rs944289, both subgroups showed marginal association (p=0.0585, OR=1.17, 95% CI 0.99 to 1.37 for BRAF(V600E)-positive cases; p=0.0492, OR=1.35, 95% CI 1.00 to 1.81 for BRAF(V600E)-negative cases). Conclusions Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC. No clear associations were observed for either SNP with BRAF(V600E) status.", "subitem_description_type": "Abstract"}]}, "item_2_description_63": {"attribute_name": "引用", "attribute_value_mlt": [{"subitem_description": "Journal of Medical Genetics, 48(9), pp.645-648; 2011", "subitem_description_type": "Other"}]}, "item_2_publisher_33": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "British Medical Association"}]}, "item_2_relation_11": {"attribute_name": "PubMed番号", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "21730105", "subitem_relation_type_select": "PMID"}}]}, "item_2_relation_12": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "10.1136/jmedgenet-2011-100063", "subitem_relation_type_select": "DOI"}}]}, "item_2_rights_13": {"attribute_name": "権利", "attribute_value_mlt": 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The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population.
http://hdl.handle.net/10069/25665
http://hdl.handle.net/10069/2566551d4ca56-d7e3-46bf-9ab1-5d8f90660408
名前 / ファイル | ライセンス | アクション |
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MedGen48_645.pdf (92.3 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2011-09-05 | |||||
タイトル | ||||||
タイトル | The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | FOXE1 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | NKX2-1 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | papillary thyroid carcinoma | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | genotyping | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SNP | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Matsuse, Michiko
× Matsuse, Michiko× Takahashi, Meiko× Mitsutake, Norisato× Nishihara, Eijun× Hirokawa, Mitsuyoshi× Kawaguchi, Takahisa× Rogounovitch, Tatiana× Saenko, Vladimir× Bychkov, Andrey× Suzuki, Keiji× Matsuo, Keitaro× Tajima, Kazuo× Miyauchi, Akira× Yamada, Ryo× Matsuda, Fumihiko× Yamashita, Shunichi |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Background FOXE1 and NKX2-1 are two known genetic risk factors for the predisposition to sporadic papillary thyroid carcinoma (PTC) in Europeans, but their association in other ethnicities is still unknown. Objective We aim to examine the association of the two genes with Japanese sporadic PTC, which exhibits high BRAF(V600E) mutation rate. Methods 507 Japanese sporadic PTC cases and 2766 controls were genotyped for rs965513 (FOXE1) and rs944289 (NKX2-1). PTC cases were also examined for their BRAF(V600E) mutational status. Results The association of both rs965513 (p=1.27×10(-4), OR=1.69, 95% CI 1.29 to 2.21) and rs944289 (p=0.0121, OR=1.21, 95% CI 1.04 to 1.39) with the risk of sporadic PTC was confirmed. Subgroup analysis based on the BRAF mutational status showed strong association of rs965513 with BRAF(V600E)-positive cases (p=2.26×10(-4), OR=1.72, 95% CI 1.29 to 2.29), but not with BRAF(V600E)-negative cases (p=0.143, OR=1.52, 95% CI 0.87 to 2.65). However, there was no difference in the observed effect size between both subgroups. For rs944289, both subgroups showed marginal association (p=0.0585, OR=1.17, 95% CI 0.99 to 1.37 for BRAF(V600E)-positive cases; p=0.0492, OR=1.35, 95% CI 1.00 to 1.81 for BRAF(V600E)-negative cases). Conclusions Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC. No clear associations were observed for either SNP with BRAF(V600E) status. | |||||
書誌情報 |
Journal of Medical Genetics 巻 48, 号 9, p. 645-648, 発行日 2011-09 |
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出版者 | ||||||
出版者 | British Medical Association | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00222593 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 14686244 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00702295 | |||||
PubMed番号 | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | PMID | |||||
関連識別子 | 21730105 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1136/jmedgenet-2011-100063 | |||||
権利 | ||||||
権利情報 | Copyright Article author (or their employer) 2011. | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal of Medical Genetics, 48(9), pp.645-648; 2011 |