메뉴 건너뛰기




Volumn 10, Issue 3, 2008, Pages 194-200

Common and rare alleles as causes of complex phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HLA ANTIGEN; HLA DQB1 ANTIGEN; HLA DR3 ANTIGEN; HLA DR4 ANTIGEN; INSULIN; MELANOCORTIN 4 RECEPTOR; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SULFONYLUREA DERIVATIVE;

EID: 49949094588     PISSN: 15233804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11883-008-0031-1     Document Type: Review
Times cited : (15)

References (34)
  • 2
    • 0035653671 scopus 로고    scopus 로고
    • Genetics of susceptibility to human infectious disease
    • Cooke GS, Hill AV: Genetics of susceptibility to human infectious disease. Nat Rev Genet 2001, 2:967-977.
    • (2001) Nat Rev Genet , vol.2 , pp. 967-977
    • Cooke, G.S.1    Hill, A.V.2
  • 4
    • 12244274329 scopus 로고    scopus 로고
    • Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methods
    • Henkin L, Bergman RN, Bowden DW, et al.: Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methods. Ann Epidemiol 2003, 13:211-217.
    • (2003) Ann Epidemiol , vol.13 , pp. 211-217
    • Henkin, L.1    Bergman, R.N.2    Bowden, D.W.3
  • 5
    • 20444502520 scopus 로고    scopus 로고
    • Genetic epidemiology of diabetes
    • Permutt MA, Wasson J, Cox N: Genetic epidemiology of diabetes. J Clin Invest 2005, 115:1431-1439.
    • (2005) J Clin Invest , vol.115 , pp. 1431-1439
    • Permutt, M.A.1    Wasson, J.2    Cox, N.3
  • 6
    • 0023797193 scopus 로고
    • Twin study of genetic and environmental effects on lipid levels
    • O'Connell DL, Heller RF, Roberts DC, et al.: Twin study of genetic and environmental effects on lipid levels. Genet Epidemiol 1988, 5:323-341.
    • (1988) Genet Epidemiol , vol.5 , pp. 323-341
    • O'Connell, D.L.1    Heller, R.F.2    Roberts, D.C.3
  • 7
    • 25844441709 scopus 로고    scopus 로고
    • Type 1 Diabetes Genetics Consortium: Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families
    • Concannon P, Erlich HA, Julier C, et al.; Type 1 Diabetes Genetics Consortium: Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 2005, 54:2995-3001.
    • (2005) Diabetes , vol.54 , pp. 2995-3001
    • Concannon, P.1    Erlich, H.A.2    Julier, C.3
  • 8
    • 3042698329 scopus 로고    scopus 로고
    • Remapping the insulin gene/ IDDM2 locus in type 1 diabetes
    • Barratt BJ, Payne F, Lowe CE, et al.: Remapping the insulin gene/ IDDM2 locus in type 1 diabetes. Diabetes 2004, 53:1884-1889.
    • (2004) Diabetes , vol.53 , pp. 1884-1889
    • Barratt, B.J.1    Payne, F.2    Lowe, C.E.3
  • 9
    • 27844608950 scopus 로고    scopus 로고
    • Monogenic and other unusual causes of diabetes mellitus
    • Nakhla M, Polychronakos C: Monogenic and other unusual causes of diabetes mellitus. Pediatr Clin North Am 2005, 52:1637-1650.
    • (2005) Pediatr Clin North Am , vol.52 , pp. 1637-1650
    • Nakhla, M.1    Polychronakos, C.2
  • 10
    • 18344376912 scopus 로고    scopus 로고
    • HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community
    • Triggs-Raine BL, Kirkpatrick RD, Kelly SL, et al.: HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci U S A 2002, 99:4614-4619.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 4614-4619
    • Triggs-Raine, B.L.1    Kirkpatrick, R.D.2    Kelly, S.L.3
  • 11
    • 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, 444:444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 12
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • International HapMap Consortium
    • International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, et al.: A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449:851-861.
    • (2007) Nature , vol.449 , pp. 851-861
    • Frazer, K.A.1    Ballinger, D.G.2    Cox, D.R.3
  • 14
    • 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, 69:124-137.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 15
    • 34147154100 scopus 로고    scopus 로고
    • Medical sequencing at the extremes of human body mass
    • Ahituv N, Kavaslar N, Schackwitz W, et al.: Medical sequencing at the extremes of human body mass. Am J Hum Genet 2007, 80:779-791.
    • (2007) Am J Hum Genet , vol.80 , pp. 779-791
    • Ahituv, N.1    Kavaslar, N.2    Schackwitz, W.3
  • 16
    • 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, 80:727-739.
    • (2007) Am J Hum Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 17
    • 70349566593 scopus 로고
    • Diabetes mellitus: A "thrifty" genotype rendered detrimental by "progress"?
    • Neel JV: Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? Am J Hum Genet 1962, 14:353-362.
    • (1962) Am J Hum Genet , vol.14 , pp. 353-362
    • Neel, J.V.1
  • 18
    • 28444469783 scopus 로고    scopus 로고
    • Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
    • Vang T, Congia M, Macis MD, et al.: Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005, 37:1317-1319.
    • (2005) Nat Genet , vol.37 , pp. 1317-1319
    • Vang, T.1    Congia, M.2    Macis, M.D.3
  • 20
    • 35648976118 scopus 로고    scopus 로고
    • The diploid genome sequence of an individual human
    • Levy S, Sutton G, Ng PC, et al.: The diploid genome sequence of an individual human. PLoS Biol 2007 5:e254.
    • (2007) PLoS Biol , vol.5
    • Levy, S.1    Sutton, G.2    Ng, P.C.3
  • 21
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • Cohen JC, Kiss RS, Pertsemlidis A, et al.: Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004, 305:869-872.
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3
  • 22
    • 0032813808 scopus 로고    scopus 로고
    • Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    • Brooks-Wilson A, Marcil M, Clee SM, et al.: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999, 22:336-345.
    • (1999) Nat Genet , vol.22 , pp. 336-345
    • Brooks-Wilson, A.1    Marcil, M.2    Clee, S.M.3
  • 24
    • 0031662163 scopus 로고    scopus 로고
    • A frameshift mutation in human MC4R is associated with a dominant form of obesity
    • Vaisse C, Clement K, Guy-Grand B, Froguel P: A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 1998, 20:113-114.
    • (1998) Nat Genet , vol.20 , pp. 113-114
    • Vaisse, C.1    Clement, K.2    Guy-Grand, B.3    Froguel, P.4
  • 25
    • 0034905674 scopus 로고    scopus 로고
    • Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children
    • Dubern B, Clément K, Pelloux V, et al.: Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. J Pediatr 2001, 139:204-209.
    • (2001) J Pediatr , vol.139 , pp. 204-209
    • Dubern, B.1    Clément, K.2    Pelloux, V.3
  • 26
    • 0027535752 scopus 로고
    • Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities
    • Miesenbock G, Holzl B, Foger B, et al.: Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J Clin Invest 1993, 91:448-455.
    • (1993) J Clin Invest , vol.91 , pp. 448-455
    • Miesenbock, G.1    Holzl, B.2    Foger, B.3
  • 27
    • 36048975597 scopus 로고    scopus 로고
    • Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650)
    • Wang J, Cao H, Ban MR, et al.: Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). Arterioscler Thromb Vasc Biol 2007, 27:2450-2455.
    • (2007) Arterioscler Thromb Vasc Biol , vol.27 , pp. 2450-2455
    • Wang, J.1    Cao, H.2    Ban, M.R.3
  • 28
    • 34547817696 scopus 로고    scopus 로고
    • New perspectives for the elucidation of genetic disorders
    • Ropers HH: New perspectives for the elucidation of genetic disorders. Am J Hum Genet 2007, 81:199-207.
    • (2007) Am J Hum Genet , vol.81 , pp. 199-207
    • Ropers, H.H.1
  • 29
    • 16844368100 scopus 로고    scopus 로고
    • Lack of MEF2A mutations in coronary artery disease
    • Weng L, Kavaslar N, Ustaszewska A, et al.: Lack of MEF2A mutations in coronary artery disease. J Clin Invest 2005, 115:1016-1020.
    • (2005) J Clin Invest , vol.115 , pp. 1016-1020
    • Weng, L.1    Kavaslar, N.2    Ustaszewska, A.3
  • 30
    • 33847176604 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel risk loci for type 2 diabetes
    • Sladek R, Rocheleau G, Rung J, et al.: A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007, 445:881-885.
    • (2007) Nature , vol.445 , pp. 881-885
    • Sladek, R.1    Rocheleau, G.2    Rung, J.3
  • 31
    • 34249895023 scopus 로고    scopus 로고
    • Wellcome Trust Case Control Consortium (WTCCC): Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    • Zeggini E, Weedon MN, Lindgren CM, et al.; Wellcome Trust Case Control Consortium (WTCCC): Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007, 316:1336-1341.
    • (2007) Science , vol.316 , pp. 1336-1341
    • Zeggini, E.1    Weedon, M.N.2    Lindgren, C.M.3
  • 32
    • 34249888775 scopus 로고    scopus 로고
    • Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Saxena R, Voight BF, Lyssenko V, et al.; Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007, 316:1331-1336.
    • (2007) Science , vol.316 , pp. 1331-1336
    • Saxena, R.1    Voight, B.F.2    Lyssenko, V.3
  • 33
    • 34249885875 scopus 로고    scopus 로고
    • A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    • Scott LJ, Mohlke KL, Bonnycastle LL, et al.: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007, 316:1341-1345
    • (2007) Science , vol.316 , pp. 1341-1345
    • Scott, L.J.1    Mohlke, K.L.2    Bonnycastle, L.L.3
  • 34
    • 34249828965 scopus 로고    scopus 로고
    • A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
    • Steinthorsdottir V, Thorleifsson G, Reynisdottir I, et al.: A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 2007, 39:770-775.
    • (2007) Nat Genet , vol.39 , pp. 770-775
    • Steinthorsdottir, V.1    Thorleifsson, G.2    Reynisdottir, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.