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Volumn 25, Issue 11, 2010, Pages 2257-2268

Genetic studies of IgA nephropathy: Past, present, and future

Author keywords

Genetics; Genome wide association study; Hereditary disease; IgA nephropathy; IgA1 glycosylation

Indexed keywords

ALPHA 2,3 SIALYLTRANSFERASE; ALPHA 2,6 SIALYLTRANSFERASE II; ANTIBODY; COLLAGEN TYPE 4; COLLAGEN TYPE 4 A3; COLLAGEN TYPE 4 A4; GLYCAN; GLYCAN ANTIBODY; IMMUNOGLOBULIN A1; IMMUNOGLOBULIN A2; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G1; IMMUNOGLOBULIN M; N ACETYLGALACTOSAMINE; SIALYLTRANSFERASE; UNCLASSIFIED DRUG;

EID: 77957254124     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1500-7     Document Type: Review
Times cited : (76)

References (78)
  • 2
    • 0023584098 scopus 로고
    • The commonest glomerulonephritis in the world: IgA nephropathy
    • D'Amico G (1987) The commonest glomerulonephritis in the world; IgA nephropathy. Q J Med 64:709-727 (Pubitemid 18047151)
    • (1987) Quarterly Journal of Medicine , vol.64 , Issue.245 , pp. 709-727
    • D'Amico, G.1
  • 3
    • 0037026702 scopus 로고    scopus 로고
    • IgA nephropathy
    • DOI 10.1056/NEJMra020109
    • JV Donadio JP Grande 2002 IgA nephropathy N Engl J Med 347 738 748 1:CAS:528:DC%2BD38Xmslertr8%3D 10.1056/NEJMra020109 12213946 (Pubitemid 35203906)
    • (2002) New England Journal of Medicine , vol.347 , Issue.10 , pp. 738-748
    • Donadio, J.V.1    Grande, J.P.2
  • 5
    • 0021986411 scopus 로고
    • Idiopathic IgA mesangial nephropathy. Clinical and histological study of 374 patients
    • G D'Amico E Imbasciati G Barbiano Di Belgioioso S Bertoli G Fogazzi F Ferrario G Fellin A Ragni G Colasanti L Minetti C Ponticelli 1985 Idiopathic IgA mesangial nephropathy. Clinical and histological study of 374 patients Medicine 64 49 60 3880853 (Pubitemid 15158991)
    • (1985) Medicine , vol.64 , Issue.1 , pp. 49-60
    • D'Amico, G.1    Imbasciati, E.2    Di Belgioioso, G.B.3
  • 6
    • 5444273583 scopus 로고    scopus 로고
    • Race/ethnicity and disease severity in IgA nephropathy
    • DOI 10.1186/1471-2369-5-10
    • YN Hall EF Fuentes GM Chertow JL Olson 2004 Race/ethnicity and disease severity in IgA nephropathy BMC Nephrol 5 10 10.1186/1471-2369-5-10 15341669 (Pubitemid 39363931)
    • (2004) BMC Nephrology , vol.5 , pp. 10
    • Hall, Y.N.1    Fuentes, E.F.2    Chertow, G.M.3    Olson, J.L.4
  • 7
    • 0027276686 scopus 로고
    • Mesangial proliferative glomerulonephritis in Southwestern American Indians
    • WE Hoy MD Hughson SM Smith DM Megill 1993 Mesangial proliferative glomerulonephritis in southwestern American Indians Am J Kidney Dis 21 486 496 1:STN:280:DyaK3s3ls1SntA%3D%3D 8488816 (Pubitemid 23160509)
    • (1993) American Journal of Kidney Diseases , vol.21 , Issue.5 , pp. 486-496
    • Hoy, W.E.1    Hughson, M.D.2    Smith, S.M.3    Megill, D.M.4
  • 8
    • 0029049486 scopus 로고
    • IgA nephropathy in renal allografts: Increased frequency in Native American patients
    • 1:STN:280:DyaK28%2FktVKjsQ%3D%3D 10.3109/08860229509037608 7569115
    • SM Smith AM Harford 1995 IgA nephropathy in renal allografts: increased frequency in Native American patients Ren Fail 17 449 456 1:STN:280: DyaK28%2FktVKjsQ%3D%3D 10.3109/08860229509037608 7569115
    • (1995) Ren Fail , vol.17 , pp. 449-456
    • Smith, S.M.1    Harford, A.M.2
  • 11
    • 0023734530 scopus 로고
    • The prevalence of IgA nephropathy in Manitoba Native Indian children
    • 1:STN:280:DyaL1M%2FivVSnsg%3D%3D 3179903
    • OG Casiro RS Stanwick RD Walker 1988 The prevalence of IgA nephropathy in Manitoba Native Indian children Can J Public Health 79 308 310 1:STN:280:DyaL1M%2FivVSnsg%3D%3D 3179903
    • (1988) Can J Public Health , vol.79 , pp. 308-310
    • Casiro, O.G.1    Stanwick, R.S.2    Walker, R.D.3
  • 12
    • 0021964474 scopus 로고
    • Familial IgA nephropathy. Evidence of an inherited mechanism of disease
    • 1:STN:280:DyaL2M%2Fos1Wlsw%3D%3D 10.1056/NEJM198501243120403 3855328
    • BA Julian PA Quiggins JS Thompson SY Woodford K Gleason RJ Wyatt 1985 Familial IgA nephropathy. Evidence of an inherited mechanism of disease N Engl J Med 312 202 208 1:STN:280:DyaL2M%2Fos1Wlsw%3D%3D 10.1056/NEJM198501243120403 3855328
    • (1985) N Engl J Med , vol.312 , pp. 202-208
    • Julian, B.A.1    Quiggins, P.A.2    Thompson, J.S.3    Woodford, S.Y.4    Gleason, K.5    Wyatt, R.J.6
  • 13
    • 0024709439 scopus 로고
    • Familial cases of Berger's disease and anaphylactoid purpura more frequent than previously thought
    • 1:STN:280:DyaL1MzjtlyjsQ%3D%3D 10.1016/S0002-9343(89)80720-X 2757072
    • M Levy 1989 Familial cases of Berger's disease and anaphylactoid purpura more frequent than previously thought Am J Med 87 246 248 1:STN:280: DyaL1MzjtlyjsQ%3D%3D 10.1016/S0002-9343(89)80720-X 2757072
    • (1989) Am J Med , vol.87 , pp. 246-248
    • Levy, M.1
  • 17
    • 0026716799 scopus 로고
    • Clinico-pathological correlations and long-term follow-up of 253 United Kingdom patients with IgA nephropathy. A report from the MRC Glomerulonephritis Registry
    • 1:STN:280:DyaK3s7jsVSjuw%3D%3D 1484940
    • PA Johnston JS Brown DA Braumholtz AM Davison 1992 Clinico-pathological correlations and long-term follow-up of 253 United Kingdom patients with IgA nephropathy. A report from the MRC Glomerulonephritis Registry Q J Med 84 619 627 1:STN:280:DyaK3s7jsVSjuw%3D%3D 1484940
    • (1992) Q J Med , vol.84 , pp. 619-627
    • Johnston, P.A.1    Brown, J.S.2    Braumholtz, D.A.3    Davison, A.M.4
  • 18
    • 0023576189 scopus 로고
    • Familial glomerulonephritis
    • DOI 10.1007/BF00849246
    • M Rambausek G Hartz R Waldherr K Andrassy E Ritz 1987 Familial glomerulonephritis Pediatr Nephrol 1 416 418 1:STN:280:DyaK3M%2FislajtA%3D%3D 10.1007/BF00849246 3153310 (Pubitemid 18016638)
    • (1987) Pediatr Nephrol , vol.1 , Issue.3 , pp. 416-418
    • Rambausek, M.1    Hartz, G.2    Waldherr, R.3    Andrassy, K.4    Ritz, E.5
  • 20
    • 0027350872 scopus 로고
    • IgA nephropathy: Pros and cons for a familial disease
    • 1:STN:280:DyaK3szhsVantA%3D%3D 8325032
    • FP Schena V Scivittaro E Ranieri 1993 IgA nephropathy: pros and cons for a familial disease Contrib Nephrol 104 36 45 1:STN:280:DyaK3szhsVantA%3D%3D 8325032
    • (1993) Contrib Nephrol , vol.104 , pp. 36-45
    • Schena, F.P.1    Scivittaro, V.2    Ranieri, E.3
  • 22
    • 0026774331 scopus 로고
    • (1992) Inter- and intrafamilial heterogeneity: Effective sampling strategies and comparison of analysis methods
    • 1:STN:280:DyaK3s%2FjsFensQ%3D%3D 1415227
    • M Durner DA Greenberg SE Hodge 1992 (1992) Inter- and intrafamilial heterogeneity: effective sampling strategies and comparison of analysis methods Am J Hum Genet 51 859 870 1:STN:280:DyaK3s%2FjsFensQ%3D%3D 1415227
    • (1992) Am J Hum Genet , vol.51 , pp. 859-870
    • Durner, M.1    Greenberg, D.A.2    Hodge, S.E.3
  • 23
    • 0026503912 scopus 로고
    • Effect of heterogeneity and assumed mode of inheritance on lod scores
    • 1:STN:280:DyaK387mtVyhsg%3D%3D 10.1002/ajmg.1320420302 1536160
    • M Durner DA Greenberg 1992 Effect of heterogeneity and assumed mode of inheritance on lod scores Am J Med Genet 42 271 275 1:STN:280: DyaK387mtVyhsg%3D%3D 10.1002/ajmg.1320420302 1536160
    • (1992) Am J Med Genet , vol.42 , pp. 271-275
    • Durner, M.1    Greenberg, D.A.2
  • 24
    • 0022457218 scopus 로고
    • Detecting linkage for genetically heterogeneous diseases and detecting heterogeneity with linkage data
    • 1:STN:280:DyaL283jvFahtA%3D%3D 3459352
    • LL Cavalli-Sforza MC King 1986 Detecting linkage for genetically heterogeneous diseases and detecting heterogeneity with linkage data Am J Hum Genet 38 599 616 1:STN:280:DyaL283jvFahtA%3D%3D 3459352
    • (1986) Am J Hum Genet , vol.38 , pp. 599-616
    • Cavalli-Sforza, L.L.1    King, M.C.2
  • 25
    • 0022466360 scopus 로고
    • The number of families required to detect or exclude linkage heterogeneity
    • J Ott 1986 The number of families required to detect or exclude linkage heterogeneity Am J Hum Genet 39 159 165 1:STN:280:DyaL28zitVamtg%3D%3D 3752084 (Pubitemid 16005407)
    • (1986) American Journal of Human Genetics , vol.39 , Issue.2 , pp. 159-165
    • Ott, J.1
  • 31
    • 0032952468 scopus 로고    scopus 로고
    • Freely associating
    • (1999) Freely associating. Nat Genet 22:1-2
    • (1999) Nat Genet , vol.22 , pp. 1-2
  • 32
    • 35248892046 scopus 로고    scopus 로고
    • The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for reporting observational studies
    • DOI 10.1016/j.ypmed.2007.08.012, PII S009174350700374X
    • E von Elm DG Altman M Egger SJ Pocock PC Gotzsche JP Vandenbroucke 2007 The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies Lancet 370 1453 1457 10.1016/S0140-6736(07)61602-X (Pubitemid 47562537)
    • (2007) Preventive Medicine , vol.45 , Issue.4 , pp. 247-251
    • Von Elm, E.1    Altman, D.G.2    Egger, M.3    Pocock, S.J.4    Gotzsche, P.C.5    Vandenbroucke, J.P.6
  • 34
    • 0035093693 scopus 로고    scopus 로고
    • Mass spectrometry proves under-O-glycosylation of glomerular IgA1 in IgA nephropathy
    • DOI 10.1046/j.1523-1755.2001.0590031077.x
    • Y Hiki H Odani M Takahashi Y Yasuda A Nishimoto H Iwase T Shinzato Y Kobayashi K Maeda 2001 Mass spectrometry proves under-O-glycosylation of glomerular IgA1 in IgA nephropathy Kidney Int 59 1077 1085 1:CAS:528: DC%2BD3MXitlOmtr8%3D 10.1046/j.1523-1755.2001.0590031077.x 11231363 (Pubitemid 32206870)
    • (2001) Kidney International , vol.59 , Issue.3 , pp. 1077-1085
    • Hiki, Y.1    Odani, H.2    Takahashi, M.3    Yasuda, Y.4    Nishimoto, A.5    Iwase, H.6    Shinzato, T.7    Kobayashi, Y.8    Maeda, K.9
  • 35
    • 0030836018 scopus 로고    scopus 로고
    • Galactose-deficient IgA1 in sera of IgA nephropathy patients is present in complexes with IgG
    • M Tomana K Matousovic BA Julian J Radl K Konecny J Mestecky 1997 Galactose-deficient IgA1 in sera of IgA nephropathy patients is present in complexes with IgG Kidney Int 52 509 516 1:STN:280:DyaK2svgvFKnuw%3D%3D 10.1038/ki.1997.361 9264010 (Pubitemid 27359597)
    • (1997) Kidney International , vol.52 , Issue.2 , pp. 509-516
    • Tomana, M.1    Matousovic, K.2    Julian, B.A.3    Radl, J.4    Konecny, K.5    Mestecky, J.6
  • 36
    • 0032695357 scopus 로고    scopus 로고
    • Circulating immune complexes in IgA nephropathy consist of IgA1 with galactose-deficient hinge region and antiglycan antibodies
    • M Tomana J Novak BA Julian K Matousovic K Konecny J Mestecky 1999 Circulating immune complexes in IgA nephropathy consist of IgA1 with galactose-deficient hinge region and antiglycan antibodies J Clin Invest 104 73 81 1:CAS:528:DyaK1MXktlOgsLc%3D 10.1172/JCI5535 10393701 (Pubitemid 29534347)
    • (1999) Journal of Clinical Investigation , vol.104 , Issue.1 , pp. 73-81
    • Tomana, M.1    Novak, J.2    Julian, B.A.3    Matousovic, K.4    Konecny, K.5    Mestecky, J.6
  • 39
    • 33847213133 scopus 로고    scopus 로고
    • Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy
    • DOI 10.1038/sj.ki.5002088, PII 5002088
    • GS Li H Zhang JC Lv Y Shen HY Wang 2007 Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy Kidney Int 71 448 453 1:CAS:528:DC%2BD2sXhvF2isLc%3D 10.1038/sj.ki.5002088 17228361 (Pubitemid 46303566)
    • (2007) Kidney International , vol.71 , Issue.5 , pp. 448-453
    • Li, G.-S.1    Zhang, H.2    Lv, J.-C.3    Shen, Y.4    Wang, H.-Y.5
  • 40
    • 67649861449 scopus 로고    scopus 로고
    • Interaction between variants of two glycosyltransferase genes in IgA nephropathy
    • 1:CAS:528:DC%2BD1MXnvVyitL4%3D 10.1038/ki.2009.99 19357720
    • L Zhu W Tang G Li J Lv J Ding L Yu M Zhao Y Li X Zhang Y Shen H Zhang H Wang 2009 Interaction between variants of two glycosyltransferase genes in IgA nephropathy Kidney Int 76 190 198 1:CAS:528:DC%2BD1MXnvVyitL4%3D 10.1038/ki.2009.99 19357720
    • (2009) Kidney Int , vol.76 , pp. 190-198
    • Zhu, L.1    Tang, W.2    Li, G.3    Lv, J.4    Ding, J.5    Yu, L.6    Zhao, M.7    Li, Y.8    Zhang, X.9    Shen, Y.10    Zhang, H.11    Wang, H.12
  • 43
    • 42949166703 scopus 로고    scopus 로고
    • B-cell O-galactosyltransferase activity, and expression of O-glycosylation genes in bone marrow in IgA nephropathy
    • DOI 10.1038/sj.ki.5002748, PII 5002748
    • KS Buck AC Smith K Molyneux H El-Barbary J Feehally J Barratt 2008 B-cell O-galactosyltransferase activity, and expression of O-glycosylation genes in bone marrow in IgA nephropathy Kidney Int 73 1128 1136 1:CAS:528: DC%2BD1cXltlGisro%3D 10.1038/sj.ki.5002748 18322546 (Pubitemid 351620426)
    • (2008) Kidney International , vol.73 , Issue.10 , pp. 1128-1136
    • Buck, K.S.1    Smith, A.C.2    Molyneux, K.3    El-Barbary, H.4    Feehally, J.5    Barratt, J.6
  • 44
    • 33645469850 scopus 로고    scopus 로고
    • O-glycosylation of serum IgD in IgA nephropathy
    • 1:CAS:528:DC%2BD28XjvFSqtrc%3D 10.1681/ASN.2005101115 16510764
    • AC Smith JF de Wolff K Molyneux J Feehally J Barratt 2006 O-glycosylation of serum IgD in IgA nephropathy J Am Soc Nephrol 17 1192 1199 1:CAS:528:DC%2BD28XjvFSqtrc%3D 10.1681/ASN.2005101115 16510764
    • (2006) J Am Soc Nephrol , vol.17 , pp. 1192-1199
    • Smith, A.C.1    De Wolff, J.F.2    Molyneux, K.3    Feehally, J.4    Barratt, J.5
  • 48
    • 73949134362 scopus 로고    scopus 로고
    • Aberrant galactosylation of IgA1 is involved in the genetic susceptibility of Chinese patients with IgA nephropathy
    • 1:CAS:528:DC%2BD1MXhtlSgsrvL 10.1093/ndt/gfp294 19531670
    • X Lin J Ding L Zhu S Shi L Jiang M Zhao H Zhang 2009 Aberrant galactosylation of IgA1 is involved in the genetic susceptibility of Chinese patients with IgA nephropathy Nephrol Dial Transplant 24 3372 3375 1:CAS:528:DC%2BD1MXhtlSgsrvL 10.1093/ndt/gfp294 19531670
    • (2009) Nephrol Dial Transplant , vol.24 , pp. 3372-3375
    • Lin, X.1    Ding, J.2    Zhu, L.3    Shi, S.4    Jiang, L.5    Zhao, M.6    Zhang, H.7
  • 49
    • 67349139414 scopus 로고    scopus 로고
    • Macromolecular IgA1 taken from patients with familial IgA nephropathy or their asymptomatic relatives have higher reactivity to mesangial cells in vitro
    • 1:CAS:528:DC%2BD1MXms12jsbk%3D 10.1038/ki.2009.71 19340088
    • KY Tam JC Leung LY Chan MF Lam SC Tang KN Lai 2009 Macromolecular IgA1 taken from patients with familial IgA nephropathy or their asymptomatic relatives have higher reactivity to mesangial cells in vitro Kidney Int 75 1330 1339 1:CAS:528:DC%2BD1MXms12jsbk%3D 10.1038/ki.2009.71 19340088
    • (2009) Kidney Int , vol.75 , pp. 1330-1339
    • Tam, K.Y.1    Leung, J.C.2    Chan, L.Y.3    Lam, M.F.4    Tang, S.C.5    Lai, K.N.6
  • 54
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • 1:CAS:528:DC%2BD1MXkvVOqsrY%3D 10.1056/NEJMra0808700 19369657
    • J Hardy A Singleton 2009 Genomewide association studies and human disease N Engl J Med 360 1759 1768 1:CAS:528:DC%2BD1MXkvVOqsrY%3D 10.1056/NEJMra0808700 19369657
    • (2009) N Engl J Med , vol.360 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 55
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • DOI 10.1038/ng1847, PII NG1847
    • AL Price NJ Patterson RM Plenge ME Weinblatt NA Shadick D Reich 2006 Principal components analysis corrects for stratification in genome-wide association studies Nat Genet 38 904 909 1:CAS:528:DC%2BD28XnsVCgsrg%3D 10.1038/ng1847 16862161 (Pubitemid 44141658)
    • (2006) Nature Genetics , vol.38 , Issue.8 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5    Reich, D.6
  • 56
    • 42249087793 scopus 로고    scopus 로고
    • Estimation of significance thresholds for genomewide association scans
    • DOI 10.1002/gepi.20297
    • F Dudbridge A Gusnanto 2008 Estimation of significance thresholds for genomewide association scans Genet Epidemiol 32 227 234 10.1002/gepi.20297 18300295 (Pubitemid 351550369)
    • (2008) Genetic Epidemiology , vol.32 , Issue.3 , pp. 227-234
    • Dudbridge, F.1    Gusnanto, A.2
  • 57
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • DOI 10.1038/nrg1521
    • JN Hirschhorn MJ Daly 2005 Genome-wide association studies for common diseases and complex traits Nat Rev Genet 6 95 108 1:CAS:528: DC%2BD2MXhtFyjsr8%3D 10.1038/nrg1521 15716906 (Pubitemid 40179532)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.2 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 65
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • DOI 10.1038/ng2080, PII NG2080
    • SA McCarroll DM Altshuler 2007 Copy-number variation and association studies of human disease Nat Genet 39 S37 S42 1:CAS:528:DC%2BD2sXmvFKmtr4%3D 10.1038/ng2080 17597780 (Pubitemid 47014474)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 66
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • DOI 10.1038/ng2028, PII NG2028
    • NP Carter 2007 Methods and strategies for analyzing copy number variation using DNA microarrays Nat Genet 39 S16 S21 1:CAS:528:DC%2BD2sXmvFKmsbk%3D 10.1038/ng2028 17597776 (Pubitemid 47014471)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Carter, N.P.1
  • 67
    • 61849115785 scopus 로고    scopus 로고
    • Copy number variation in the human genome and its implication in autoimmunity
    • 1:CAS:528:DC%2BD1MXksVKiurc%3D 10.1111/j.1365-2249.2008.03865.x 19220326
    • H Schaschl TJ Aitman TJ Vyse 2009 Copy number variation in the human genome and its implication in autoimmunity Clin Exp Immunol 156 12 16 1:CAS:528:DC%2BD1MXksVKiurc%3D 10.1111/j.1365-2249.2008.03865.x 19220326
    • (2009) Clin Exp Immunol , vol.156 , pp. 12-16
    • Schaschl, H.1    Aitman, T.J.2    Vyse, T.J.3
  • 70
    • 0036899513 scopus 로고    scopus 로고
    • The genetics of variation in gene expression
    • 1:CAS:528:DC%2BD38XovFyqs7k%3D 10.1038/ng1036 12454648
    • VG Cheung RS Spielman 2002 The genetics of variation in gene expression Nat Genet 32 Suppl 522 525 1:CAS:528:DC%2BD38XovFyqs7k%3D 10.1038/ng1036 12454648
    • (2002) Nat Genet , vol.32 , Issue.SUPPL. , pp. 522-525
    • Cheung, V.G.1    Spielman, R.S.2
  • 72
    • 70249134919 scopus 로고    scopus 로고
    • Molecular networks as sensors and drivers of common human diseases
    • 1:CAS:528:DC%2BD1MXhtFSnt7jO 10.1038/nature08454 19741703
    • EE Schadt 2009 Molecular networks as sensors and drivers of common human diseases Nature 461 218 223 1:CAS:528:DC%2BD1MXhtFSnt7jO 10.1038/nature08454 19741703
    • (2009) Nature , vol.461 , pp. 218-223
    • Schadt, E.E.1
  • 73
    • 67149117126 scopus 로고    scopus 로고
    • Discovery of rare variants via sequencing: Implications for the design of complex trait association studies
    • 10.1371/journal.pgen.1000481 19436704
    • B Li SM Leal 2009 Discovery of rare variants via sequencing: implications for the design of complex trait association studies PLoS Genet 5 e1000481 10.1371/journal.pgen.1000481 19436704
    • (2009) PLoS Genet , vol.5 , pp. 1000481
    • Li, B.1    Leal, S.M.2
  • 74
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • DOI 10.1126/science.1099870
    • JC Cohen RS Kiss A Pertsemlidis YL Marcel R McPherson HH Hobbs 2004 Multiple rare alleles contribute to low plasma levels of HDL cholesterol Science 305 869 872 1:CAS:528:DC%2BD2cXmt1Krsbk%3D 10.1126/science.1099870 15297675 (Pubitemid 39038422)
    • (2004) Science , vol.305 , Issue.5685 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5    Hobbs, H.H.6
  • 75
    • 34047177395 scopus 로고    scopus 로고
    • Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
    • DOI 10.1038/ng1984, PII NG1984
    • S Romeo LA Pennacchio Y Fu E Boerwinkle A Tybjaerg-Hansen HH Hobbs JC Cohen 2007 Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL Nat Genet 39 513 516 1:CAS:528: DC%2BD2sXjsV2hsr0%3D 10.1038/ng1984 17322881 (Pubitemid 46514768)
    • (2007) Nature Genetics , vol.39 , Issue.4 , pp. 513-516
    • Romeo, S.1    Pennacchio, L.A.2    Fu, Y.3    Boerwinkle, E.4    Tybjaerg-Hansen, A.5    Hobbs, H.H.6    Cohen, J.C.7
  • 76


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