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http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82645完整後設資料紀錄
| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 林菀俞(Wan-Yu Lin) | |
| dc.contributor.author | Cheng-Hung Sun | en |
| dc.contributor.author | 孫成宏 | zh_TW |
| dc.date.accessioned | 2022-11-25T07:48:30Z | - |
| dc.date.available | 2024-09-01 | |
| dc.date.copyright | 2021-11-11 | |
| dc.date.issued | 2021 | |
| dc.date.submitted | 2021-10-20 | |
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Circulation research, 122(3), 433-443. van Vliet-Ostaptchouk, J., den Hoed, M., Luan, J., Zhao, J., Ong, K., Van Der Most, P., Van Der Klauw, M. (2013). Pleiotropic effects of obesity-susceptibility loci on metabolic traits: a meta-analysis of up to 37,874 individuals. In: Springer. vanÂīt Hooft, F., SyvÃĪnen, A.-C. Association of Genetic Risk Variants with Expression of Proximal Genes Identifies Novel Susceptibility Genes for Cardiovascular Disease. Wang, J., Burnett, J. R., Near, S., Young, K., Zinman, B., Hanley, A. J., Hegele, R. A. (2000). Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arteriosclerosis, thrombosis, and vascular biology, 20(8), 1983-1989. Wang, Y., Zhang, Y., Li, Y., Zhou, X., Wang, X., Gao, P., Zhu, D. (2013). Common variants in the ATP2B1 gene are associated with hypertension and arterial stiffness in Chinese population. Molecular biology reports, 40(2), 1867-1873. Wei, C.-Y., Yang, J.-H., Yeh, E.-C., Tsai, M.-F., Kao, H.-J., Lo, C.-Z., Belsare, S. (2021). Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ genomic medicine, 6(1), 1-10. Wei, F.-Y., Suzuki, T., Watanabe, S., Kimura, S., Kaitsuka, T., Fujimura, A., Fontecave, M. (2011). Deficit of tRNA Lys modification by Cdkal1 causes the development of type 2 diabetes in mice. The Journal of clinical investigation, 121(9). Wheeler, E., Leong, A., Liu, C.-T., Hivert, M.-F., Strawbridge, R. J., Podmore, C., Hong, J. (2017). Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS medicine, 14(9), e1002383. Whitfield, A. J., Barrett, P. H. R., Van Bockxmeer, F. M., Burnett, J. R. (2004). Lipid disorders and mutations in the APOB gene. Clinical chemistry, 50(10), 1725-1732. Willer, C. J., Schmidt, E. M., Sengupta, S., Peloso, G. M., Gustafsson, S., Kanoni, S., Mora, S. (2013). Discovery and refinement of loci associated with lipid levels. Nature genetics, 45(11), 1274. Wu, Y., Waite, L. L., Jackson, A. U., Sheu, W. H., Buyske, S., Absher, D., Carty, C. L. (2013). Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet, 9(3), e1003379. Xie, M., Yuan, S., Zeng, Y., Zheng, C., Yang, Y., Dong, Y., He, Q. (2021). ATP2B1 gene polymorphisms rs2681472 and rs17249754 are associated with susceptibility to hypertension and blood pressure levels: A systematic review and meta-analysis. Medicine, 100(15), e25530. doi:10.1097/md.0000000000025530 Zhang, H., Mo, X., Zhou, Z., Zhu, Z., HuangFu, X., Guo, Z., Zhang, Y. (2019). Detection of Putative Functional Single Nucleotide Polymorphisms in Blood Pressure Loci and Validation of Association Between Single Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese Han Population. Journal of cardiovascular pharmacology, 73(1), 48-55. Zhang, R., Abou-Samra, A. B. (2014). A dual role of lipasin (betatrophin) in lipid metabolism and glucose homeostasis: consensus and controversy. Cardiovascular diabetology, 13(1), 1-10. Zimoń, M., Huang, Y., Trasta, A., Liu, J. Z., Chen, C.-Y., Halavatyi, A., Sexton, D. (2020). Pairwise genetic interactions modulate lipid plasma levels and cellular uptake. bioRxiv. 김근희. (2020). Blood lipids and risk of acute myocardial infarction using Mendelian randomization. 연세대학교 보건대학원, | |
| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82645 | - |
| dc.description.abstract | "根據衛生福利部1999~2019年的統計資料，臺灣十大死因排行中有五項疾病與心血管相關。另外，根據2019年世界衛生組織（WHO）的調查顯示，全球總死亡人數中，有大於70%的人死於非傳染性的慢性病，而最大的比例就是心血管疾病，每3人中就有1人死於與心血管相關的疾病，「三高」儼然已成為全球重要的健康議題。由於人類文明演進、生活方式的改變及遺傳因子的影響，遺傳力比例在高血糖表型約從26%到72%之間；在高血壓表型約從為44%到63%之間；而高血脂為30%到80%之間。 隨著醫學的進步，心血管疾病表型也被發現與特定基因相關，因此在本研究中，使用了八項表型來探討影響心血管疾病的基因，並進一步整合其相對應的單核苷酸多型性及基因，以探究該疾病背後隱含的關聯性。這八項表型包含高密度脂蛋白膽固醇HDL-C (high-density lipoprotein cholesterol)、低密度脂蛋白膽固醇LDL-C (low-density lipoprotein cholesterol)、總膽固醇TC (total cholesterol)、三酸甘油脂TG (triglyceride)、收縮壓SBP (systolic blood pressure)、舒張壓DBP (diastolic blood pressure)、空腹血糖值FG (fasting glucose) 與糖化血色素HB (HbA1c)。 本研究使用全基因組關聯分析(Genome-wide association study ,GWAS)方法來分析，資料來源為「臺灣人體生物資料庫」(TWB)，定出受測者基因型的晶片為TWB1晶片及TWB2晶片，時間從2012至2020。研究的分析組(TWBB1)、驗證組(TWBB2)分別有25,460及68,983位民眾，兩晶片涵蓋的「單核苷酸多型性」(SNPs)分別為597,644個與606,096個。本研究將空腹血糖值(FG)與糖化血色素(HbA1c)代表高血糖表型；舒張壓(DBP)與收縮壓(SBP)代表高血壓表型；高密度脂蛋白膽固醇(HDL-C) 、低密度脂蛋白膽固醇(LDL-C)、總膽固醇(TC)以及三酸甘油脂(TG)代表高血脂症表型。在釐清這八項表型彼此之間的關聯性時，先將TWBB1及 TWBB2資料庫中的基因及SNP主效應作為影響心血管疾病的相關因子，羅列出各表型關係基因與SNPs，以此分析八項表型之SNPs之間的共通性來探討心血管疾病。本研究將顯著水準設為5x10-8 (即百萬分之0.05)。 彙整各表型的重疊性最突顯的基因，結果分述如下: 1) 高血糖指標兩個表型 FG與HbA1c的共同基因為CDC123、KCNQ1、CDKAL1；2) 高血壓指標兩個表型DBP與SBP的共有基因為ATP2B1；3)在高血脂症指標四個表型HDL-C、LDL-C、TC及TG共同基因分為兩類，APOE、DOCK6為HDL-C、LDL-C及TC 之共同基因；APOB為TC、LDL-C及TG之共同基因。 最後所篩選出來的基因中，除了新發現的臺灣漢族特有基因外，其餘與三高相關的基因在歐洲、亞洲及非洲血統皆有先前1989~2021的文獻探討，結果也與本研究一致。 與三高疾病關聯基因是本研究的主要探討的方向，出發點是希望能貢獻於精準醫療、預防醫學及公共衛生。由於三高的遺傳力不低，若能透過基因檢測提早預防三高疾病，培養良好的飲食、運動習慣，將能促進社會大眾健康的正循環價值。" | zh_TW |
| dc.description.provenance | Made available in DSpace on 2022-11-25T07:48:30Z (GMT). No. of bitstreams: 1 U0001-1810202121152100.pdf: 3652530 bytes, checksum: 5d62e5ee207b06790fc680fd6c5c8985 (MD5) Previous issue date: 2021 | en |
| dc.description.tableofcontents | "致謝 I 中文摘要 II ABSTRACT IV 目錄 VI 圖目錄 IX 表目錄 X 第一章. 緒論 1 第二章. 材料與方法 2 2.1 臺灣人體生物資料庫(TWB) 2 2.1.1 材料來源道德聲明 2 2.2 品質管控 2 2.3 基因型補值 3 2.4 與三高疾病有關的八項表型 4 2.5 共變項定義 4 2.6全基因組關聯分析(GENOME-WIDE ASSOCIATION STUDY, GWAS) 5 2.6.1 篩選出候選基因 5 2.6.2 表型之配適模型 5 第三章. 結果 6 3.1 八項表型之主效應分析 6 3.1.1 高血糖表型之主效應分析_空腹血糖值 6 3.1.2 高血糖表型之主效應分析_糖化血色素 6 3.1.3 高血壓表型之主效應分析_舒張壓 7 3.1.4 高血壓表型之主效應分析_收縮壓 7 3.1.5 高血脂表型之主效應分析_高密度脂蛋白膽固醇 7 3.1.6 高血脂表型之主效應分析_低密度脂蛋白膽固醇 8 3.1.7 高血脂表型之主效應分析_總膽固醇 8 3.1.8 高血脂表型之主效應分析_三酸甘油脂 8 3.2 八項表型之綜合性評估 9 3.2.1 分析高血糖表型主效應之關聯 9 3.2.2 分析高血壓表型主效應之關聯 9 3.2.3 分析高血脂表型主效應之關聯 9 第四章. 討論 10 4.1 特有基因發現與過去研究的比較 10 4.2 研究所面臨的限制 11 4.3 研究與創新 12 4.4 結語 13 第五章. 圖 14 第六章. 表 18 第七章. 參考文獻 19 第八章. 附錄 30 附錄一 空腹血糖值(FG)之危險候選基因篩選(TWBB1/TWBB2) 30 附錄二 糖化血色素(HB)之危險候選基因篩選(TWBB1/TWBB2) 34 附錄三 舒張壓(DBP)之危險候選基因篩選(TWBB1/TWBB2) 38 附錄四 收縮壓(SBP)之危險候選基因篩選(TWBB1/TWBB2) 40 附錄五 高密度脂蛋白膽固醇(HDL-C)之危險候選基因篩選(TWBB1/TWBB2) 43 附錄六 低密度脂蛋白膽固醇(LDL-C)之危險候選基因篩選(TWBB1/TWBB2) 65 附錄七 總膽固醇(TC)之危險候選基因篩選(TWBB1/TWBB2) 79 附錄八 三酸甘油脂(TG)之危險候選基因篩選(TWBB1/TWBB2) 104" | |
| dc.language.iso | zh-TW | |
| dc.subject | 單核苷酸多型性 | zh_TW |
| dc.subject | 全基因組關聯分析 | zh_TW |
| dc.subject | 三高 | zh_TW |
| dc.subject | 基因 | zh_TW |
| dc.subject | 臺灣人體生物資料庫 | zh_TW |
| dc.subject | Genome-wide Association Study(GWAS) | en |
| dc.subject | Taiwan Biobank | en |
| dc.subject | Gene | en |
| dc.subject | Three-Hypers | en |
| dc.subject | Single Nucleotide Polymorphisms (SNPs) | en |
| dc.title | 三高疾病八表型之全基因組關聯分析 | zh_TW |
| dc.title | Genome-wide association study for eight phenotypes of three-hypers disease (hyperglycemia、hypertension、hyperlipidemia) | en |
| dc.date.schoolyear | 109-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.oralexamcommittee | 劉貞佑(Hsin-Tsai Liu),杜裕康(Chih-Yang Tseng) | |
| dc.subject.keyword | 臺灣人體生物資料庫,基因,三高,單核苷酸多型性,全基因組關聯分析, | zh_TW |
| dc.subject.keyword | Taiwan Biobank,Gene,Three-Hypers,Single Nucleotide Polymorphisms (SNPs),Genome-wide Association Study(GWAS), | en |
| dc.relation.page | 108 | |
| dc.identifier.doi | 10.6342/NTU202103845 | |
| dc.rights.note | 同意授權(限校園內公開) | |
| dc.date.accepted | 2021-10-20 | |
| dc.contributor.author-college | 公共衛生學院 | zh_TW |
| dc.contributor.author-dept | 流行病學與預防醫學研究所 | zh_TW |
| dc.date.embargo-lift | 2024-09-01 | - |
| 顯示於系所單位： | 流行病學與預防醫學研究所 | |
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