利用基因功能註解分類以及方差分量方法分析三酸甘油脂之遺傳度

Analyses of Heritability for Triglyceride Levels Using Functional Annotation Partition and Variance Component Approach

藍鈴雅

功能註解 ； 分差分量方法 ； 遺傳度 ； 全基因組關聯研究 ； functional annotation ； variance component ； heritability ； GWAS

交通大學統計學研究所學位論文

2016年

碩士

熊昭;盧鴻興

英文

1. [2] P. Lichtenstein, B. Yip, C. Björk, and Y. Pawitan, “Common genetic influences for schizophrenia and bipolar disorder: a population-based study of 2 million nuclear families,” Lancet, vol. 373, no. 9659, 2009.
   連結：
2. [3] Schizophrenia Working Group of the Psychiatric Genomics Consortium, “Biological insights from 108 schizophrenia-associated genetic loci,” Nature, vol. 511, no. 7510, pp. 421–427, 2014.
   連結：
3. [6] J. Yang, B. Benyamin, B. P. McEvoy, S. Gordon, A. K. Henders, and Others, “Common {SNPs} explain a large proportion of the heritability for human height,” Nat Gen, vol. 42, no. 7, pp. 565–569, 2010.
   連結：
4. [7] J. Yang, T. A. Manolio, L. R. Pasquale, E. Boerwinkle, N. Caporaso, J. M. Cunningham, M. de Andrade, B. Feenstra, E. Feingold, M. G. Hayes, W. G. Hill, M. T. Landi, A. Alonso, G. Lettre, P. Lin, H. Ling, W. Lowe, R. A. Mathias, M. Melbye, E. Pugh, M. C. Cornelis, B. S. Weir, M. E. Goddard, and P. M. Visscher, “Genome partitioning of genetic variation for complex traits using common SNPs.,” Nat. Genet., vol. 43, no. 6, pp. 519–25, 2011.
   連結：
5. [8] L. K. Davis, D. Yu, C. L. Keenan, E. R. Gamazon, A. I. Konkashbaev, E. M. Derks, B. M. Neale, J. Yang, S. H. Lee, P. Evans, C. L. Barr, L. Bellodi, F. Benarroch, G. B. Berrio, O. J. Bienvenu, M. H. Bloch, R. M. Blom, R. D. Bruun, C. L. Budman, B. Camarena, D. Campbell, C. Cappi, J. C. Cardona Silgado, D. C. Cath, M. C. Cavallini, D. A. Chavira, S. Chouinard, D. V. Conti, E. H. Cook, V. Coric, B. A. Cullen, D. Deforce, R. Delorme, Y. Dion, C. K. Edlund, K. Egberts, P. Falkai, T. V. Fernandez, P. J. Gallagher, H. Garrido, D. Geller, S. L. Girard, H. J. Grabe, M. A. Grados, B. D. Greenberg, V. Gross-Tsur, S. Haddad, G. A. Heiman, S. M. J. Hemmings, A. G. Hounie, C. Illmann, J. Jankovic, M. A. Jenike, J. L. Kennedy, R. A. King, B. Kremeyer, R. Kurlan, N. Lanzagorta, M. Leboyer, J. F. Leckman, L. Lennertz, C. Liu, C. Lochner, T. L. Lowe, F. Macciardi, J. T. McCracken, L. M. McGrath, S. C. Mesa Restrepo, R. Moessner, J. Morgan, H. Muller, D. L. Murphy, A. L. Naarden, W. C. Ochoa, R. A. Ophoff, L. Osiecki, A. J. Pakstis, M. T. Pato, C. N. Pato, J. Piacentini, C. Pittenger, Y. Pollak, S. L. Rauch, T. J. Renner, V. I. Reus, M. A. Richter, M. A. Riddle, M. M. Robertson, R. Romero, M. C. Rosàrio, D. Rosenberg, G. A. Rouleau, S. Ruhrmann, A. Ruiz-Linares, A. S. Sampaio, J. Samuels, P. Sandor, B. Sheppard, H. S. Singer, J. H. Smit, D. J. Stein, E. Strengman, J. A. Tischfield, A. V. Valencia Duarte, H. Vallada, F. Van Nieuwerburgh, J. Veenstra-VanderWeele, S. Walitza, Y. Wang, J. R. Wendland, H. G. M. Westenberg, Y. Y. Shugart, E. C. Miguel, W. McMahon, M. Wagner, H. Nicolini, D. Posthuma, G. L. Hanna, P. Heutink, D. Denys, P. D. Arnold, B. A. Oostra, G. Nestadt, N. B. Freimer, D. L. Pauls, N. R. Wray, S. E. Stewart, C. A. Mathews, J. A. Knowles, N. J. Cox, and J. M. Scharf, “Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture,” PLoS Genet., vol. 9, no. 10, 2013.
   連結：
6. [9] J. K. Pickrell, “Joint analysis of functional genomic data and genome-wide association studies of 18 human traits,” Am. J. Hum. Genet., vol. 94, no. 4, pp. 559–573, 2014.
   連結：
7. [10] G. Kichaev, W. Y. Yang, S. Lindstrom, F. Hormozdiari, E. Eskin, A. L. Price, P. Kraft, and B. Pasaniuc, “Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies,” PLoS Genet., vol. 10, no. 10, 2014.
   連結：
8. [12] S. M. Grundy, J. I. Cleeman, S. R. Daniels, K. A. Donato, R. H. Eckel, B. A. Franklin, D. J. Gordon, R. M. Krauss, P. J. Savage, S. C. Smith, J. A. Spertus, and F. Costa, “Diagnosis and management of the metabolic syndrome: An American Heart Association/National Heart, Lung, and Blood Institute scientific statement,” Circulation, vol. 112, no. 17, pp. 2735–2752, 2005.
   連結：
9. [13] H. Lakka and D. Laaksonen, “The metabolic syndrome and total and cardiovascular disease mortality in middle-aged men,” Jama, vol. 288, no. 21, pp. 2709–2716, 2002.
   連結：
10. [14] B. J. Arsenault, S. M. Boekholdt, and J. J. P. Kastelein, “Lipid parameters for measuring risk of cardiovascular disease.,” Nat. Rev. Cardiol., vol. 8, no. 4, pp. 197–206, 2011.
    連結：
11. [17] C.-T. Fan, J.-C. Lin, and C.-H. Lee, “Taiwan Biobank: a project aiming to aid Taiwan’s transition into a biomedical island.,” Pharmacogenomics, vol. 9, no. 2, pp. 235–246, 2008.
    連結：
12. [18] H. C. Yang, C. H. Lin, C. L. Hsu, S. I. Hung, J. Y. Wu, W. H. Pan, Y. T. Chen, and C. S. J. Fann, “A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians,” J. Biomed. Sci., vol. 13, no. 4, pp. 489–498, 2006.
    連結：
13. [19] S. H. Lee, N. R. Wray, M. E. Goddard, and P. M. Visscher, “Estimating missing heritability for disease from genome-wide association studies,” Am. J. Hum. Genet., vol. 88, no. 3, pp. 294–305, 2011.
    連結：
14. [22] J. Yang, S. H. Lee, M. E. Goddard, and P. M. Visscher, “GCTA: A tool for genome-wide complex trait analysis,” Am. J. Hum. Genet., vol. 88, no. 1, pp. 76–82, 2011.
    連結：
15. [23] A. Hodgkinson and A. Eyre-Walker, “Variation in the mutation rate across mammalian genomes,” Nat. Rev. Genet., vol. 12, no. 11, pp. 756–766, 2011.
    連結：
16. [24] C. T.-S. and T. 1000 G. P. C. Vincenza Colonna, Qasim Ayub, Yuan Chen, Luca Pagani, Pierre Luisi, Marc Pybus, Erik Garrison, Yali Xue, “Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences,” pp. 1–14, 2014.
    連結：
17. [1] R. J. Klein, C. Zeiss, E. Y. Chew, J.-Y. Tsai, R. S. Sackler, C. Haynes, A. K. Henning, J. P. SanGiovanni, S. M. Mane, S. T. Mayne, M. B. Bracken, F. L. Ferris, J. Ott, C. Barnstable, and J. Hoh, “Complement factor H polymorphism in age-related macular degeneration.,” Science, vol. 308, no. 5720, pp. 385–9, 2005.
18. [4] P. M. Visscher, M. A. Brown, M. I. McCarthy, and J. Yang, “Five years of GWAS discovery,” American Journal of Human Genetics, vol. 90, no. 1. pp. 7–24, 2012.
19. [5] S. Lee, T. DeCandia, S. Ripke, J. Yang, S. P. G.-W. A. S. C. (PGC-SCZ), I. S. C. (ISC), M. G. of S. C. (MGS), P. Sullivan, M. Goddard, M. Keller, P. Visscher, and N. Wray, “Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs,” Nat. Genet., vol. 44, no. 3, pp. 247–250, 2012.
20. [11] S. Mottillo, K. B. Filion, J. Genest, L. Joseph, L. Pilote, P. Poirier, S. Rinfret, E. L. Schiffrin, and M. J. Eisenberg, “The metabolic syndrome and cardiovascular risk: A systematic review and meta-analysis,” J. Am. Coll. Cardiol., vol. 56, no. 14, pp. 1113–1132, 2010.
21. [15] M. E. Walton, “UKPMC Funders Group Author Manuscript,” Cell, vol. 44, no. 2, pp. 1–16, 2009.
22. [20] A. Gusev, S. H. Lee, G. Trynka, H. Finucane, B. J. Vilhjálmsson, H. Xu, C. Zang, S. Ripke, B. Bulik-Sullivan, E. Stahl, A. K. Kähler, C. M. Hultman, S. M. Purcell, S. A. McCarroll, M. Daly, B. Pasaniuc, P. F. Sullivan, B. M. Neale, N. R. Wray, S. Raychaudhuri, A. L. Price, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SWE-SCZ Consortium, “Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases,” Am. J. Hum. Genet., vol. 95, no. 5, pp. 535–552, 2014.
23. [21] A. Brahm and R. A. Hegele, “Hypertriglyceridemia,” Nutrients, vol. 5, no. 3, pp. 981–1001, 2013.