과제정보
This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (NRF-2020R1C1C1A01012657) and Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2021R1A6A1A10044154). This work was supported by Soongsil University Research Fund.
참고문헌
- Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA, et al. 10 Years of GWAS discovery: biology, function, and translation. Am J Hum Genet 2017;101:5-22. https://doi.org/10.1016/j.ajhg.2017.06.005
- Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet 2012;90:7-24. https://doi.org/10.1016/j.ajhg.2011.11.029
- Chatterjee N, Shi J, Garcia-Closas M. Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet 2016;17:392-406. https://doi.org/10.1038/nrg.2016.27
- Yang J, Zeng J, Goddard ME, Wray NR, Visscher PM. Concepts, estimation and interpretation of SNP-based heritability. Nat Genet 2017;49:1304-1310. https://doi.org/10.1038/ng.3941
- Wang K, Gaitsch H, Poon H, Cox NJ, Rzhetsky A. Classification of common human diseases derived from shared genetic and environmental determinants. Nat Genet 2017;49:1319-1325. https://doi.org/10.1038/ng.3931
- Munoz M, Pong-Wong R, Canela-Xandri O, Rawlik K, Haley CS, Tenesa A. Evaluating the contribution of genetics and familial shared environment to common disease using the UK Biobank. Nat Genet 2016;48:980-983. https://doi.org/10.1038/ng.3618
- Wray NR, Yang J, Hayes BJ, Price AL, Goddard ME, Visscher PM. Pitfalls of predicting complex traits from SNPs. Nat Rev Genet 2013;14:507-515. https://doi.org/10.1038/nrg3457
- Chung W, Zou F. Mixed-effects models for GAW18 longitudinal blood pressure data. BMC Proc 2014;8(Suppl 1):S87. https://doi.org/10.1186/1753-6561-8-S1-S87
- Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 2018;50:1219-1224. https://doi.org/10.1038/s41588-018-0183-z
- Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575. https://doi.org/10.1086/519795
- Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet 2011;88:76-82. https://doi.org/10.1016/j.ajhg.2010.11.011
- Vilhjalmsson BJ, Yang J, Finucane HK, Gusev A, Lindstrom S, Ripke S, et al. Modeling linkage disequilibrium increases accuracy of polygenic risk scores. Am J Hum Genet 2015;97:576-592. https://doi.org/10.1016/j.ajhg.2015.09.001
- de Los Campos G, Vazquez AI, Fernando R, Klimentidis YC, Sorensen D. Prediction of complex human traits using the genomic best linear unbiased predictor. PLoS Genet 2013;9:e1003608. https://doi.org/10.1371/journal.pgen.1003608
- Robinson MR, Kleinman A, Graff M, Vinkhuyzen AA, Couper D, Miller MB, et al. Genetic evidence of assortative mating in humans. Nature Human Behaviour 2017;1:0016. https://doi.org/10.1038/s41562-016-0016
- Erbe M, Hayes BJ, Matukumalli LK, Goswami S, Bowman PJ, Reich CM, et al. Improving accuracy of genomic predictions within and between dairy cattle breeds with imputed high-density single nucleotide polymorphism panels. J Dairy Sci 2012;95:4114-4129. https://doi.org/10.3168/jds.2011-5019
- Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, et al. Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. Am J Hum Genet 2015;96:283-294. https://doi.org/10.1016/j.ajhg.2014.12.006
- Lloyd-Jones LR, Zeng J, Sidorenko J, Yengo L, Moser G, Kemper KE, et al. Improved polygenic prediction by Bayesian multiple regression on summary statistics. Nat Commun 2019;10:5086. https://doi.org/10.1038/s41467-019-12653-0
- Tibshirani R. Regression shrinkage and selection via the Lasso. J R Stat Soc Series B Stat Methodol 1996;58:267-288.
- Lello L, Avery SG, Tellier L, Vazquez AI, de Los Campos G, Hsu SD. Accurate genomic prediction of human height. Genetics 2018;210:477-497. https://doi.org/10.1534/genetics.118.301267
- Zou H, Hastie T. Regularization and variable selection via the elastic net. J R Stat Soc Series B Stat Methodol 2005;67:301-320. https://doi.org/10.1111/j.1467-9868.2005.00503.x
- Mak TS, Porsch RM, Choi SW, Zhou X, Sham PC. Polygenic scores via penalized regression on summary statistics. Genet Epidemiol 2017;41:469-480. https://doi.org/10.1002/gepi.22050
- Maier RM, Zhu Z, Lee SH, Trzaskowski M, Ruderfer DM, Stahl EA, et al. Improving genetic prediction by leveraging genetic correlations among human diseases and traits. Nat Commun 2018;9:989. https://doi.org/10.1038/s41467-017-02769-6
- Chung W, Chen J, Turman C, Lindstrom S, Zhu Z, Loh PR, et al. Efficient cross-trait penalized regression increases prediction accuracy in large cohorts using secondary phenotypes. Nat Commun 2019;10:569. https://doi.org/10.1038/s41467-019-08535-0
- Coram MA, Fang H, Candille SI, Assimes TL, Tang H. Leveraging multi-ethnic evidence for risk assessment of quantitative traits in minority populations. Am J Hum Genet 2017;101:218-226. https://doi.org/10.1016/j.ajhg.2017.06.015
- Marquez-Luna C, Loh PR; South Asian Type 2 Diabetes (SAT2D) Consortium; SIGMA Type 2 Diabetes Consortium, Price AL. Multiethnic polygenic risk scores improve risk prediction in diverse populations. Genet Epidemiol 2017;41:811-823. https://doi.org/10.1002/gepi.22083
- Cavazos TB, Witte JS. Inclusion of variants discovered from diverse populations improves polygenic risk score transferability. HGG Adv 2021;2:100017.
- International Schizophrenia Consortium; Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009;460:748-752. https://doi.org/10.1038/nature08185
- Pasaniuc B, Price AL. Dissecting the genetics of complex traits using summary association statistics. Nat Rev Genet 2017;18:117-127. https://doi.org/10.1038/nrg.2016.142
- Wray NR, Yang J, Goddard ME, Visscher PM. The genetic interpretation of area under the ROC curve in genomic profiling. PLoS Genet 2010;6:e1000864. https://doi.org/10.1371/journal.pgen.1000864
- Lee SH, Goddard ME, Wray NR, Visscher PM. A better coefficient of determination for genetic profile analysis. Genet Epidemiol 2012;36:214-224. https://doi.org/10.1002/gepi.21614
- Daetwyler HD, Villanueva B, Woolliams JA. Accuracy of predicting the genetic risk of disease using a genome-wide approach. PLoS One 2008;3:e3395. https://doi.org/10.1371/journal.pone.0003395
- Visscher PM, Yang J, Goddard ME. A commentary on 'common SNPs explain a large proportion of the heritability for human height' by Yang et al. (2010). Twin Res Hum Genet 2010;13:517-524. https://doi.org/10.1375/twin.13.6.517
- Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature 2015;518:197-206. https://doi.org/10.1038/nature14177
- Polychronakos C, Li Q. Understanding type 1 diabetes through genetics: advances and prospects. Nat Rev Genet 2011;12:781-792. https://doi.org/10.1038/nrg3069
- Euesden J, Lewis CM, O'Reilly PF. PRSice: polygenic risk score software. Bioinformatics 2015;31:1466-1468. https://doi.org/10.1093/bioinformatics/btu848
- Choi SW, O'Reilly PF. PRSice-2: Polygenic Risk Score software for biobank-scale data. Gigascience 2019;8:giz082. https://doi.org/10.1093/gigascience/giz082
- Allen NE, Sudlow C, Peakman T, Collins R, Biobank UK. UK biobank data: come and get it. Sci Transl Med 2014;6:224e.d224.
- UKBiobank. Genotyping and Quality Control of UK Biobank, a Large-Scale, Extensively Phenotyped Prospective Resource. Cheshire: UK Biobank, 2015.
- UKBiobank. UK Biobank: Genotyping and Imputation Data Release. Cheshire: UK Biobank, 2018.
- Morris AP, Voight BF, Teslovich TM, Ferreira T, Segre AV, Steinthorsdottir V, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012;44:981-990. https://doi.org/10.1038/ng.2383
- Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet 2018;50:1505-1513. https://doi.org/10.1038/s41588-018-0241-6
- Prive F, Arbel J, Vilhjalmsson BJ. LDpred2: better, faster, stronger. Bioinformatics 2020;36:5424-5431.
- Meuwissen TH, Hayes BJ, Goddard ME. Prediction of total genetic value using genome-wide dense marker maps. Genetics 2001;157:1819-1829. https://doi.org/10.1093/genetics/157.4.1819
- Habier D, Fernando RL, Dekkers JC. The impact of genetic relationship information on genome-assisted breeding values. Genetics 2007;177:2389-2397. https://doi.org/10.1534/genetics.107.081190
- Loh PR, Tucker G, Bulik-Sullivan BK, Vilhjalmsson BJ, Finucane HK, Salem RM, et al. Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat Genet 2015;47:284-290. https://doi.org/10.1038/ng.3190
- Stahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, Voight BF, et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet 2012;44:483-489. https://doi.org/10.1038/ng.2232
- Zou H. The adaptive lasso and its oracle properties. J Am Stat Assoc 2006;101:1418-1429. https://doi.org/10.1198/016214506000000735
- Abraham G, Kowalczyk A, Zobel J, Inouye M. Performance and robustness of penalized and unpenalized methods for genetic prediction of complex human disease. Genet Epidemiol 2013;37:184-195. https://doi.org/10.1002/gepi.21698
- Abraham G, Tye-Din JA, Bhalala OG, Kowalczyk A, Zobel J, Inouye M. Accurate and robust genomic prediction of celiac disease using statistical learning. PLoS Genet 2014;10:e1004137. https://doi.org/10.1371/journal.pgen.1004137
- Wu TT, Chen YF, Hastie T, Sobel E, Lange K. Genome-wide association analysis by lasso penalized logistic regression. Bioinformatics 2009;25:714-721. https://doi.org/10.1093/bioinformatics/btp041
- Turley P, Walters RK, Maghzian O, Okbay A, Lee JJ, Fontana MA, et al. Multi-trait analysis of genome-wide association summary statistics using MTAG. Nat Genet 2018;50:229-237. https://doi.org/10.1038/s41588-017-0009-4
- Li C, Yang C, Gelernter J, Zhao H. Improving genetic risk prediction by leveraging pleiotropy. Hum Genet 2014;133:639-650. https://doi.org/10.1007/s00439-013-1401-5
- Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, et al. Human demographic history impacts genetic risk prediction across diverse populations. Am J Hum Genet 2017;100:635-649. https://doi.org/10.1016/j.ajhg.2017.03.004
- Wang Y, Guo J, Ni G, Yang J, Visscher PM, Yengo L. Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations. Nat Commun 2020;11:3865. https://doi.org/10.1038/s41467-020-17719-y