메뉴 건너뛰기




Volumn 50, Issue 9, 2018, Pages 1219-1224

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

Author keywords

[No Author keywords available]

Indexed keywords

AREA UNDER THE CURVE; ATRIAL FIBRILLATION; BREAST CANCER; CANCER RISK; CORONARY ARTERY DISEASE; CORONARY RISK; GENETIC RISK; GENOME WIDE POLYGENIC SCORE; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HUMAN; INFLAMMATORY BOWEL DISEASE; LETTER; MONOGENIC MUTATION; MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SCORING SYSTEM; ADULT; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOME ANALYSIS; HIGH RISK POPULATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; AGED; DISEASES; GENETIC PREDISPOSITION; GENETICS; PROCEDURES; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 85052496079     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/s41588-018-0183-z     Document Type: Letter
Times cited : (1992)

References (36)
  • 1
    • 79951472909 scopus 로고    scopus 로고
    • Charting a course for genomic medicine from base pairs to bedside
    • PID: 21307933
    • Green, E. D. & Guyer, M. S., National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature 470, 204–213 (2011)
    • (2011) Nature , vol.470 , pp. 204-213
    • Green, E.D.1    Guyer, M.S.2
  • 2
    • 0001077470 scopus 로고
    • The correlation between relatives on the supposition of Mendelian inheritance
    • Fisher, R. A. The correlation between relatives on the supposition of Mendelian inheritance. Proc. R. Soc. Edinb. 52, 99–433 (1918)
    • (1918) Proc. R. Soc. Edinb. , vol.52 , pp. 99-433
    • Fisher, R.A.1
  • 3
    • 84855925920 scopus 로고    scopus 로고
    • Rare and common variants: twenty arguments
    • PID: 22251874
    • Gibson, G. Rare and common variants: twenty arguments. Nat. Rev. Genet. 13, 135–145 (2012)
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 135-145
    • Gibson, G.1
  • 4
    • 84916623158 scopus 로고    scopus 로고
    • Measuring missing heritability: inferring the contribution of common variants
    • PID: 25422463
    • Golan, D., Lander, E. S. & Rosset, S. Measuring missing heritability: inferring the contribution of common variants. Proc. Natl Acad. Sci. USA 111, E5272–E5281 (2014)
    • (2014) Proc. Natl Acad. Sci. USA , vol.111 , pp. E5272-E5281
    • Golan, D.1    Lander, E.S.2    Rosset, S.3
  • 5
    • 84978128486 scopus 로고    scopus 로고
    • The genetic architecture of type 2 diabetes
    • PID: 27398621
    • Fuchsberger, C. et al. The genetic architecture of type 2 diabetes. Nature 536, 41–47 (2016)
    • (2016) Nature , vol.536 , pp. 41-47
    • Fuchsberger, C.1
  • 6
    • 85007138010 scopus 로고    scopus 로고
    • Genetic identification of familial hypercholesterolemia within a single U.S. health care system
    • Abul-Husn, N. S. et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science 354, pii: aaf7000 (2016)
    • (2016) Science , vol.354
    • Abul-Husn, N.S.1
  • 7
    • 84890461947 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society
    • PID: 23956253
    • Nordestgaard, B. G. et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur. Heart J. 34, 3478–3490a (2013)
    • (2013) Eur. Heart J. , vol.34 , pp. 3478-3490a
    • Nordestgaard, B.G.1
  • 8
    • 84982253941 scopus 로고    scopus 로고
    • Analysis of protein-coding genetic variation in 60,706 humans
    • PID: 27535533
    • Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016)
    • (2016) Nature , vol.536 , pp. 285-291
    • Lek, M.1
  • 9
    • 84902185032 scopus 로고    scopus 로고
    • Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population
    • PID: 24915262
    • Estrada, K. et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA 311, 2305–2314 (2014)
    • (2014) JAMA , vol.311 , pp. 2305-2314
    • Estrada, K.1
  • 10
    • 84875700256 scopus 로고    scopus 로고
    • Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies
    • PID: 23455638
    • Chatterjee, N. et al. Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. Nat. Genet. 45, 400–405 (2013)
    • (2013) Nat. Genet. , vol.45 , pp. 400-405
    • Chatterjee, N.1
  • 12
    • 78049314943 scopus 로고    scopus 로고
    • A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses
    • PID: 20971364
    • Ripatti, S. et al. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet 376, 1393–1400 (2010)
    • (2010) Lancet , vol.376 , pp. 1393-1400
    • Ripatti, S.1
  • 13
    • 84952665106 scopus 로고    scopus 로고
    • Modeling linkage disequilibrium increases accuracy of polygenic scores
    • PID: 26430803
    • Vilhjálmsson, B. J. et al. Modeling linkage disequilibrium increases accuracy of polygenic scores. Am. J. Hum. Genet. 97, 576–592 (2015)
    • (2015) Am. J. Hum. Genet. , vol.97 , pp. 576-592
    • Vilhjálmsson, B.J.1
  • 14
    • 84926430250 scopus 로고    scopus 로고
    • UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age
    • PID: 25826379
    • Sudlow, C. et al. UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 12, e1001779 (2015)
    • (2015) PLoS Med. , vol.12
    • Sudlow, C.1
  • 16
    • 84942987885 scopus 로고    scopus 로고
    • A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease
    • PID: 26343387
    • Nikpay, M. et al. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat. Genet. 47, 1121–1130 (2015)
    • (2015) Nat. Genet. , vol.47 , pp. 1121-1130
    • Nikpay, M.1
  • 17
    • 84962173287 scopus 로고    scopus 로고
    • Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history
    • PID: 26392438
    • Tada, H. et al. Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history. Eur. Heart J. 37, 561–567 (2016)
    • (2016) Eur. Heart J. , vol.37 , pp. 561-567
    • Tada, H.1
  • 18
    • 85013640169 scopus 로고    scopus 로고
    • Genomic prediction of coronary heart disease
    • PID: 27655226
    • Abraham, G. et al. Genomic prediction of coronary heart disease. Eur. Heart J. 37, 3267–3278 (2016)
    • (2016) Eur. Heart J. , vol.37 , pp. 3267-3278
    • Abraham, G.1
  • 19
    • 85005980701 scopus 로고    scopus 로고
    • Genetic risk, adherence to a healthy lifestyle, and coronary disease
    • PID: 27959714
    • Khera, A. V. et al. Genetic risk, adherence to a healthy lifestyle, and coronary disease. N. Engl. J. Med. 375, 2349–2358 (2016)
    • (2016) N. Engl. J. Med. , vol.375 , pp. 2349-2358
    • Khera, A.V.1
  • 20
    • 84934277268 scopus 로고    scopus 로고
    • Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials
    • PID: 25748612
    • Mega, J. L. et al. Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet 385, 2264–2271 (2015)
    • (2015) Lancet , vol.385 , pp. 2264-2271
    • Mega, J.L.1
  • 21
    • 85018477382 scopus 로고    scopus 로고
    • Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting
    • PID: 28223407
    • Natarajan, P. et al. Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting. Circulation 135, 2091–2101 (2017)
    • (2017) Circulation , vol.135 , pp. 2091-2101
    • Natarajan, P.1
  • 22
    • 84916925479 scopus 로고    scopus 로고
    • 2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines and the Heart Rhythm Society
    • PID: 24682347
    • January, C. T. et al. 2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines and the Heart Rhythm Society. Circulation 130, e199–e267 (2014)
    • (2014) Circulation , vol.130 , pp. e199-e267
    • January, C.T.1
  • 23
    • 84994092049 scopus 로고    scopus 로고
    • Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015
    • GBD 2015 Disease and Injury Incidence and Prevalence Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015. Lancet 388, 1545–1602 (2016)
    • (2016) Lancet , vol.388 , pp. 1545-1602
  • 24
    • 0037034257 scopus 로고    scopus 로고
    • Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin
    • PID: 11832527
    • Knowler, W. C. et al. Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin. N. Engl. J. Med. 346, 393–403 (2002)
    • (2002) N. Engl. J. Med. , vol.346 , pp. 393-403
    • Knowler, W.C.1
  • 25
    • 70949107842 scopus 로고    scopus 로고
    • Inflammatory bowel disease
    • PID: 19923578
    • Abraham, C. & Cho, J. H. Inflammatory bowel disease. N. Engl. J. Med. 361, 2066–2078 (2009)
    • (2009) N. Engl. J. Med. , vol.361 , pp. 2066-2078
    • Abraham, C.1    Cho, J.H.2
  • 26
    • 45949085378 scopus 로고    scopus 로고
    • Polygenes, risk prediction, and targeted prevention of breast cancer
    • PID: 18579814
    • Pharoah, P. D., Antoniou, A. C., Easton, D. F. & Ponder, B. A. Polygenes, risk prediction, and targeted prevention of breast cancer. N. Engl. J. Med. 358, 2796–2803 (2008)
    • (2008) N. Engl. J. Med. , vol.358 , pp. 2796-2803
    • Pharoah, P.D.1    Antoniou, A.C.2    Easton, D.F.3    Ponder, B.A.4
  • 27
    • 85032748509 scopus 로고    scopus 로고
    • Comparison of sociodemographic and health-related characteristics of UK Biobank participants with those of the general population
    • PID: 28641372
    • Fry, A. et al. Comparison of sociodemographic and health-related characteristics of UK Biobank participants with those of the general population. Am. J. Epidemiol. 186, 1026–1034 (2017)
    • (2017) Am. J. Epidemiol. , vol.186 , pp. 1026-1034
    • Fry, A.1
  • 28
    • 85015166340 scopus 로고    scopus 로고
    • Is coronary atherosclerosis one disease or many? Setting realistic expectations for precision medicine
    • PID: 28289003
    • Khera, A. V. & Kathiresan, S. Is coronary atherosclerosis one disease or many? Setting realistic expectations for precision medicine. Circulation 135, 1005–1007 (2017)
    • (2017) Circulation , vol.135 , pp. 1005-1007
    • Khera, A.V.1    Kathiresan, S.2
  • 29
    • 85016462296 scopus 로고    scopus 로고
    • Human demographic history impacts genetic risk prediction across diverse populations
    • PID: 28366442
    • Martin, A. R. et al. Human demographic history impacts genetic risk prediction across diverse populations. Am. J. Hum. Genet. 100, 635–649 (2017)
    • (2017) Am. J. Hum. Genet. , vol.100 , pp. 635-649
    • Martin, A.R.1
  • 30
    • 85017510399 scopus 로고    scopus 로고
    • Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation
    • PID: 28416818
    • Christophersen, I. E. et al. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat. Genet. 49, 946–952 (2017)
    • (2017) Nat. Genet. , vol.49 , pp. 946-952
    • Christophersen, I.E.1
  • 31
    • 85030182446 scopus 로고    scopus 로고
    • An expanded genome-wide association study of type 2 diabetes in Europeans
    • PID: 28566273
    • Scott, R. A. et al. An expanded genome-wide association study of type 2 diabetes in Europeans. Diabetes 66, 2888–2902 (2017)
    • (2017) Diabetes , vol.66 , pp. 2888-2902
    • Scott, R.A.1
  • 32
    • 84940771118 scopus 로고    scopus 로고
    • Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations
    • PID: 26192919
    • Liu, J. Z. et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat. Genet. 47, 979–986 (2015)
    • (2015) Nat. Genet. , vol.47 , pp. 979-986
    • Liu, J.Z.1
  • 33
    • 85033379332 scopus 로고    scopus 로고
    • Association analysis identifies 65 new breast cancer risk loci
    • PID: 29059683
    • Michailidou, K. et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551, 92–94 (2017)
    • (2017) Nature , vol.551 , pp. 92-94
    • Michailidou, K.1
  • 34
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68–74 (2015)
    • (2015) Nature , vol.526 , pp. 68-74
  • 35
    • 84930213392 scopus 로고    scopus 로고
    • Second-generation PLINK: rising to the challenge of larger and richer datasets
    • PID: 25722852
    • Chang, C. C. et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience 4, 7 (2015)
    • (2015) GigaScience , vol.4
    • Chang, C.C.1
  • 36
    • 84989954196 scopus 로고    scopus 로고
    • Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
    • PID: 27694993
    • Ganna, A. et al. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat. Neurosci. 19, 1563–1565 (2016)
    • (2016) Nat. Neurosci. , vol.19 , pp. 1563-1565
    • Ganna, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.