메뉴 건너뛰기




Volumn 13, Issue 5, 2014, Pages 353-361

How important are rare variants in common disease?

Author keywords

Common disease; Common variants; Mutation selection balance; Next generation sequencing; Population genetics; Rare variants

Indexed keywords

ARTICLE; GENE SEQUENCE; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GENETIC VARIATION; HUMAN; HUMAN GENOME; POPULATION GENETICS; BIOLOGICAL MODEL; DISEASES; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

EID: 84920476665     PISSN: 20412649     EISSN: 20412657     Source Type: Journal    
DOI: 10.1093/bfgp/elu025     Document Type: Article
Times cited : (61)

References (45)
  • 1
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001;17:502-10.
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 2
    • 70350028725 scopus 로고    scopus 로고
    • Finding common susceptibility variants for complex disease: past, present: future
    • Panoutsopoulou K, Zeggini E. Finding common susceptibility variants for complex disease: past, present: future. Brief FunctGenomics Proteomics 2009;8:345-52.
    • (2009) Brief FunctGenomics Proteomics , vol.8 , pp. 345-352
    • Panoutsopoulou, K.1    Zeggini, E.2
  • 3
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio TA. Genomewide association studies and assessment of the risk of disease. NewEngJMed 2010;363:166-76.
    • (2010) NewEngJMed , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 4
    • 79954541810 scopus 로고    scopus 로고
    • Genome-wide association studies and type 2 diabetes
    • Wheeler E, Barroso I. Genome-wide association studies and type 2 diabetes. Brief Funct Genomics 2011;10:52-60.
    • (2011) Brief Funct Genomics , vol.10 , pp. 52-60
    • Wheeler, E.1    Barroso, I.2
  • 5
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 6
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang J, Benyamin B, McEvoy BP, et al. Common SNPs explain a large proportion of the heritability for human height. Nat Genet 2010;42:565-9.
    • (2010) Nat Genet , vol.42 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3
  • 7
    • 84868337361 scopus 로고    scopus 로고
    • Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
    • Morris AP, Voight BF, Teslovich TM, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012;44:981-90.
    • (2012) Nat Genet , vol.44 , pp. 981-990
    • Morris, A.P.1    Voight, B.F.2    Teslovich, T.M.3
  • 8
    • 62549085618 scopus 로고    scopus 로고
    • Human genetic variation and its contribution to complex traits
    • Frazer KA, Murray SS, Schork NJ, et al. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009;10:241-51.
    • (2009) Nat Rev Genet , vol.10 , pp. 241-251
    • Frazer, K.A.1    Murray, S.S.2    Schork, N.J.3
  • 9
    • 0029805706 scopus 로고    scopus 로고
    • The new genomics: global views of biology
    • Lander ES. The new genomics: global views of biology. Science 1996;274:536-9.
    • (1996) Science , vol.274 , pp. 536-539
    • Lander, E.S.1
  • 10
    • 79551619981 scopus 로고    scopus 로고
    • Evolutionary evidence of the effect of rare variants on disease etiology
    • Gorlov IP, Gorlova OY, Frazier ML, et al. Evolutionary evidence of the effect of rare variants on disease etiology. Clin Genet 2011;79:199-206.
    • (2011) Clin Genet , vol.79 , pp. 199-206
    • Gorlov, I.P.1    Gorlova, O.Y.2    Frazier, M.L.3
  • 11
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40:695-701.
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 12
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat RevGenet 2010;11:415-25.
    • (2010) Nat RevGenet , vol.11 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 13
    • 80053549439 scopus 로고    scopus 로고
    • Clan genomics and the complex architecture of human disease
    • Lupski JR, Belmont JW, Boerwinkle E, et al. Clan genomics and the complex architecture of human disease. Cell 2011; 147:32-43.
    • (2011) Cell , vol.147 , pp. 32-43
    • Lupski, J.R.1    Belmont, J.W.2    Boerwinkle, E.3
  • 14
    • 84893378179 scopus 로고    scopus 로고
    • Searching for missing heritability: designing rare variant association studies
    • Zuk O, Schaffner SF, Samocha K, et al. Searching for missing heritability: designing rare variant association studies. ProcNatl Acad SciUSA 2014;111:E455-64.
    • (2014) ProcNatl Acad SciUSA , vol.111 , pp. E455-E464
    • Zuk, O.1    Schaffner, S.F.2    Samocha, K.3
  • 15
    • 0029185699 scopus 로고
    • The distribution of rare alleles
    • Joyce P, Tavare S. The distribution of rare alleles. J Math Biol 1995;33:602-18.
    • (1995) J Math Biol , vol.33 , pp. 602-618
    • Joyce, P.1    Tavare, S.2
  • 16
    • 34250904283 scopus 로고    scopus 로고
    • Triallelic single nucleotide polymorphisms and genotyping error in genetic epidemiology studies: MDR1 (ABCB1) G2677/T/A as an example
    • Huebner C, Petermann I, Browning BL, et al. Triallelic single nucleotide polymorphisms and genotyping error in genetic epidemiology studies: MDR1 (ABCB1) G2677/T/A as an example. Cancer Epidemiol Biomarkers Prev 2007;16: 1185-92.
    • (2007) Cancer Epidemiol Biomarkers Prev , vol.16 , pp. 1185-1192
    • Huebner, C.1    Petermann, I.2    Browning, B.L.3
  • 18
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444: 444-54.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 19
    • 79551581823 scopus 로고    scopus 로고
    • Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study
    • Marenne G, Rodriguez-Santiago B, Closas MG, et al. Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. HumMutat 2011;32:240-8.
    • (2011) HumMutat , vol.32 , pp. 240-248
    • Marenne, G.1    Rodriguez-Santiago, B.2    Closas, M.G.3
  • 20
    • 68649101805 scopus 로고    scopus 로고
    • Common vs. rare allele hypotheses for complex diseases
    • Schork NJ, Murray SS, Frazer KA, et al. Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev 2009;19:212-9.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 212-219
    • Schork, N.J.1    Murray, S.S.2    Frazer, K.A.3
  • 21
    • 70349566593 scopus 로고
    • Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?
    • Neel JV. Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? AmJ Hum Genet 1962;14: 353-62.
    • (1962) AmJ Hum Genet , vol.14 , pp. 353-362
    • Neel, J.V.1
  • 22
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001;69: 124-37.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 23
    • 0036799545 scopus 로고    scopus 로고
    • The allelic architecture of human disease genes: common disease-common variant. or not?
    • Pritchard JK, Cox NJ. The allelic architecture of human disease genes: common disease-common variant. or not? HumMol Genet 2002;11:2417-23.
    • (2002) HumMol Genet , vol.11 , pp. 2417-2423
    • Pritchard, J.K.1    Cox, N.J.2
  • 24
    • 33750935988 scopus 로고    scopus 로고
    • Population genetics models of common diseases
    • Di Rienzo A. Population genetics models of common diseases. CurrOpin Genet Dev 2006;16:630-6.
    • (2006) CurrOpin Genet Dev , vol.16 , pp. 630-636
    • Di Rienzo, A.1
  • 25
    • 84893730773 scopus 로고    scopus 로고
    • Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes
    • Ayub Q, Moutsianas L, Chen Y, et al. Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes. AmJ Hum Genet 2014;94:176-85.
    • (2014) AmJ Hum Genet , vol.94 , pp. 176-185
    • Ayub, Q.1    Moutsianas, L.2    Chen, Y.3
  • 26
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
    • Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007;80:727-39.
    • (2007) Am J Hum Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 27
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
    • Gorlov IP, Gorlova OY, Sunyaev SR, et al. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. AmJ Hum Genet 2008;82:100-12.
    • (2008) AmJ Hum Genet , vol.82 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3
  • 28
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012;491:56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 29
    • 79961091828 scopus 로고    scopus 로고
    • Demographic history and rare allele sharing among human populations
    • Gravel S, Henn BM, Gutenkunst RN, et al. Demographic history and rare allele sharing among human populations. ProcNatl Acad SciUSA 2011;108:11983-8.
    • (2011) ProcNatl Acad SciUSA , vol.108 , pp. 11983-11988
    • Gravel, S.1    Henn, B.M.2    Gutenkunst, R.N.3
  • 30
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst RN, Hernandez RD, Williamson SH, et al. Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet 2009;5:e1000695.
    • (2009) PLoS Genet , vol.5
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3
  • 31
    • 78650037203 scopus 로고    scopus 로고
    • Deep resequencing reveals excess rare recent variants consistent with explosive population growth
    • Coventry A, Bull-Otterson LM, Liu X, et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun 2010;1:131.
    • (2010) Nat Commun , vol.1 , pp. 131
    • Coventry, A.1    Bull-Otterson, L.M.2    Liu, X.3
  • 32
    • 84892579470 scopus 로고    scopus 로고
    • Neutral genomic regions refine models of recent rapid human population growth
    • Gazave E, Ma L, Chang D, et al. Neutral genomic regions refine models of recent rapid human population growth. ProcNatl Acad SciUSA 2014;111:757-62.
    • (2014) ProcNatl Acad SciUSA , vol.111 , pp. 757-762
    • Gazave, E.1    Ma, L.2    Chang, D.3
  • 33
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012;336:740-3.
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 34
    • 84863541347 scopus 로고    scopus 로고
    • An abundance of rare functional variants in 202 drug target genes sequenced in 14, 002 people
    • Nelson MR, Wegmann D, Ehm MG, et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14, 002 people. Science 2012;337:100-4.
    • (2012) Science , vol.337 , pp. 100-104
    • Nelson, M.R.1    Wegmann, D.2    Ehm, M.G.3
  • 35
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337:64-9.
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3
  • 36
    • 84878994629 scopus 로고    scopus 로고
    • Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
    • Hunt KA, Mistry V, Bockett NA, et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 2013;498:232-5.
    • (2013) Nature , vol.498 , pp. 232-235
    • Hunt, K.A.1    Mistry, V.2    Bockett, N.A.3
  • 37
    • 77249134594 scopus 로고    scopus 로고
    • Rare variants create synthetic genome-wide associations
    • Dickson SP, Wang K, Krantz I, et al. Rare variants create synthetic genome-wide associations. PLoS Biol 2010;8: e1000294.
    • (2010) PLoS Biol , vol.8
    • Dickson, S.P.1    Wang, K.2    Krantz, I.3
  • 38
    • 84878878253 scopus 로고    scopus 로고
    • Sequence kernel association tests for the combined effect of rare and common variants
    • Ionita-Laza I, Lee S, Makarov V, et al. Sequence kernel association tests for the combined effect of rare and common variants. AmJHum Genet 2013;92:841-53.
    • (2013) AmJHum Genet , vol.92 , pp. 841-853
    • Ionita-Laza, I.1    Lee, S.2    Makarov, V.3
  • 39
    • 84893904007 scopus 로고    scopus 로고
    • A polygenic burden of rare disruptive mutations in schizophrenia
    • Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 2014; 506:185-90.
    • (2014) Nature , vol.506 , pp. 185-190
    • Purcell, S.M.1    Moran, J.L.2    Fromer, M.3
  • 40
    • 84890260477 scopus 로고    scopus 로고
    • Whole-exome sequencing of 2, 000 Danish individuals and the role of rare coding variants in type 2 diabetes
    • Lohmueller KE, Sparso T, Li Q, et al. Whole-exome sequencing of 2, 000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet 2013;93:1072-86.
    • (2013) Am J Hum Genet , vol.93 , pp. 1072-1086
    • Lohmueller, K.E.1    Sparso, T.2    Li, Q.3
  • 41
    • 84888389414 scopus 로고    scopus 로고
    • Evaluating empirical bounds on complex disease genetic architecture
    • Agarwala V, Flannick J, Sunyaev S, et al. Evaluating empirical bounds on complex disease genetic architecture. Nat Genet 2013;45:1418-27.
    • (2013) Nat Genet , vol.45 , pp. 1418-1427
    • Agarwala, V.1    Flannick, J.2    Sunyaev, S.3
  • 42
    • 84885045485 scopus 로고    scopus 로고
    • Will formal genetics become dispensable?
    • Clerget-Darpoux F, Elston RC. Will formal genetics become dispensable? HumHered 2013;76:47-52.
    • (2013) HumHered , vol.76 , pp. 47-52
    • Clerget-Darpoux, F.1    Elston, R.C.2
  • 43
    • 84892819277 scopus 로고    scopus 로고
    • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
    • Cruchaga C, Karch CM, Jin SC, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014;505:550-4.
    • (2014) Nature , vol.505 , pp. 550-554
    • Cruchaga, C.1    Karch, C.M.2    Jin, S.C.3
  • 44
    • 33847189247 scopus 로고    scopus 로고
    • Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?
    • Bourgain C, Genin E, Cox N, et al. Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases? Euro J Hum Genet 2007;15:260-3.
    • (2007) Euro J Hum Genet , vol.15 , pp. 260-263
    • Bourgain, C.1    Genin, E.2    Cox, N.3
  • 45
    • 34249095490 scopus 로고    scopus 로고
    • Are linkage analysis and the collection of family data dead?. Prospects for family studies in the age of genome-wide association
    • Clerget-Darpoux F, Elston RC. Are linkage analysis and the collection of family data dead? Prospects for family studies in the age of genome-wide association. Hum Hered 2007;64: 91-6.
    • (2007) Hum Hered , vol.64 , pp. 91-96
    • Clerget-Darpoux, F.1    Elston, R.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.