메뉴 건너뛰기




Volumn 12, Issue 5, 2012, Pages 425-431

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations

Author keywords

enzyme activity; Lp PLA2; rare variant; re sequencing

Indexed keywords

1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; PHOSPHOLIPASE A2 INHIBITOR;

EID: 84866736410     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/tpj.2011.20     Document Type: Article
Times cited : (23)

References (27)
  • 1
    • 77951605907 scopus 로고    scopus 로고
    • Lipoprotein-associated phospholipase A(2) and risk of coronary disease, stroke, and mortality: Collaborative analysis of 32 prospective studies
    • Thompson A, Gao P, Orfei L, Watson S, Di AE, Kaptoge S et al. Lipoprotein-associated phospholipase A(2) and risk of coronary disease, stroke, and mortality: collaborative analysis of 32 prospective studies. Lancet 2010; 375: 1536-1544.
    • (2010) Lancet , vol.375 , pp. 1536-1544
    • Thompson, A.1    Gao, P.2    Orfei, L.3    Watson, S.4    Di Kaptoge, A.E.S.5
  • 2
    • 54049152760 scopus 로고    scopus 로고
    • Effects of the direct lipoprotein-associated phospholipase A(2) inhibitor darapladib on human coronary atherosclerotic plaque
    • Serruys PW, Garcia-Garcia HM, Buszman P, Erne P, Verheye S, Aschermann M et al. Effects of the direct lipoprotein-associated phospholipase A(2) inhibitor darapladib on human coronary atherosclerotic plaque. Circulation 2008; 118: 1172-1182.
    • (2008) Circulation , vol.118 , pp. 1172-1182
    • Serruys, P.W.1    Garcia-Garcia, H.M.2    Buszman, P.3    Erne, P.4    Verheye, S.5    Aschermann, M.6
  • 3
    • 33748752140 scopus 로고    scopus 로고
    • The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men
    • Jang Y, Kim OY, Koh SJ, Chae JS, Ko YG, Kim JY et al. The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men. J Clin Endocrinol Metab 2006; 91: 3521-3527.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3521-3527
    • Jang, Y.1    Kim, O.Y.2    Koh, S.J.3    Chae, J.S.4    Ko, Y.G.5    Kim, J.Y.6
  • 4
    • 77953230836 scopus 로고    scopus 로고
    • PLA2G7 genotype, lipoprotein-associated phospholipase A2 activity, and coronary heart disease risk in 10 494 cases and 15 624 controls of European Ancestry
    • Casas JP, Ninio E, Panayiotou A, Palmen J, Cooper JA, Ricketts SL et al. PLA2G7 genotype, lipoprotein-associated phospholipase A2 activity, and coronary heart disease risk in 10 494 cases and 15 624 controls of European Ancestry. Circulation 2010; 121: 2284-2293.
    • (2010) Circulation , vol.121 , pp. 2284-2293
    • Casas, J.P.1    Ninio, E.2    Panayiotou, A.3    Palmen, J.4    Cooper, J.A.5    Ricketts, S.L.6
  • 5
    • 34047177395 scopus 로고    scopus 로고
    • Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
    • Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH et al. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 2007; 39: 513-516.
    • (2007) Nat Genet , vol.39 , pp. 513-516
    • Romeo, S.1    Pennacchio, L.A.2    Fu, Y.3    Boerwinkle, E.4    Tybjaerg-Hansen, A.5    Hobbs, H.H.6
  • 6
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40: 592-599.
    • (2008) Nat Genet , vol.40 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3    Zhao, H.4    Larson, M.G.5    Simon, D.B.6
  • 7
    • 42449133365 scopus 로고    scopus 로고
    • The CoLaus study: A population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome
    • Firmann M, Mayor V, Vidal PM, Bochud M, Pecoud A, Hayoz D et al. The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome. BMC Cardiovasc Disord 2008; 8: 6.
    • (2008) BMC Cardiovasc Disord , vol.8 , pp. 6
    • Firmann, M.1    Mayor, V.2    Vidal, P.M.3    Bochud, M.4    Pecoud, A.5    Hayoz, D.6
  • 8
    • 33750353461 scopus 로고    scopus 로고
    • Predicting the effects of amino acid substitutions on protein function
    • Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 2006; 7: 61-80.
    • (2006) Annu Rev Genomics Hum Genet , vol.7 , pp. 61-80
    • Ng, P.C.1    Henikoff, S.2
  • 9
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 11
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-3900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 12
    • 65249106014 scopus 로고    scopus 로고
    • The PsyCoLaus study: Methodology and characteristics of the sample of a population-based survey on psychiatric disorders and their association with genetic and cardiovascular risk factors
    • Preisig M, Waeber G, Vollenweider P, Bovet P, Rothen S, Vandeleur C et al. The PsyCoLaus study: methodology and characteristics of the sample of a population-based survey on psychiatric disorders and their association with genetic and cardiovascular risk factors. BMC Psychiatry 2009; 9: 9.
    • (2009) BMC Psychiatry , vol.9 , pp. 9
    • Preisig, M.1    Waeber, G.2    Vollenweider, P.3    Bovet, P.4    Rothen, S.5    Vandeleur, C.6
  • 13
    • 33644624797 scopus 로고    scopus 로고
    • Automating sequence-based detection and genotyping of SNPs from diploid samples
    • Stephens M, Sloan JS, Robertson PD, Scheet P, Nickerson DA. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet 2006; 38: 375-381.
    • (2006) Nat Genet , vol.38 , pp. 375-381
    • Stephens, M.1    Sloan, J.S.2    Robertson, P.D.3    Scheet, P.4    Nickerson, D.A.5
  • 14
    • 33751545322 scopus 로고    scopus 로고
    • Automating resequencingbased detection of insertion-deletion polymorphisms
    • Bhangale TR, Stephens M, Nickerson DA. Automating resequencingbased detection of insertion-deletion polymorphisms. Nat Genet 2006; 38: 1457-1462.
    • (2006) Nat Genet , vol.38 , pp. 1457-1462
    • Bhangale, T.R.1    Stephens, M.2    Nickerson, D.A.3
  • 15
    • 67149117126 scopus 로고    scopus 로고
    • Discovery of rare variants via sequencing: Implications for the design of complex trait association studies
    • Li B, Leal SM. Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet 2009; 5: e1000481.
    • (2009) PLoS Genet , vol.5
    • Li, B.1    Leal, S.M.2
  • 16
    • 44349142294 scopus 로고    scopus 로고
    • Common variants near MC4R are associated with fat mass, weight and risk of obesity
    • Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I et al. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008; 40: 768-775.
    • (2008) Nat Genet , vol.40 , pp. 768-775
    • Loos, R.J.1    Lindgren, C.M.2    Li, S.3    Wheeler, E.4    Zhao, J.H.5    Prokopenko, I.6
  • 20
    • 57649123149 scopus 로고    scopus 로고
    • Crystal structure of human plasma plateletactivating factor acetylhydrolase: Structural implication to lipoprotein binding and catalysis
    • Samanta U, Bahnson BJ. Crystal structure of human plasma plateletactivating factor acetylhydrolase: structural implication to lipoprotein binding and catalysis. J Biol Chem 2008; 283: 31617-31624.
    • (2008) J Biol Chem , vol.283 , pp. 31617-31624
    • Samanta, U.1    Bahnson, B.J.2
  • 22
    • 58849131407 scopus 로고    scopus 로고
    • Associations of PLA2G7 gene polymorphisms with plasma lipoprotein-associated phospholipase A2 activity and coronary heart disease in a Chinese Han population: The Beijing atherosclerosis study
    • Hou L, Chen S, Yu H, Lu X, Chen J, Wang L et al. Associations of PLA2G7 gene polymorphisms with plasma lipoprotein-associated phospholipase A2 activity and coronary heart disease in a Chinese Han population: the Beijing atherosclerosis study. Hum Genet 2009; 125: 11-20.
    • (2009) Hum Genet , vol.125 , pp. 11-20
    • Hou, L.1    Chen, S.2    Yu, H.3    Lu, X.4    Chen, J.5    Wang, L.6
  • 23
    • 3242712234 scopus 로고    scopus 로고
    • Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease
    • Ninio E, Tregouet D, Carrier JL, Stengel D, Bickel C, Perret C et al. Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease. Hum Mol Genet 2004; 13: 1341-1351.
    • (2004) Hum Mol Genet , vol.13 , pp. 1341-1351
    • Ninio, E.1    Tregouet, D.2    Carrier, J.L.3    Stengel, D.4    Bickel, C.5    Perret, C.6
  • 24
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 2005; 37: 161-165.
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 25
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • Cohen JC, Boerwinkle E, Mosley Jr TH, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006; 354: 1264-1272.
    • (2006) N Engl J Med , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley Jr., T.H.3    Hobbs, H.H.4
  • 26
    • 33748661502 scopus 로고    scopus 로고
    • Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
    • Zhao Z, Tuakli-Wosornu Y, Lagace TA, Kinch L, Grishin NV, Horton JD et al. Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet 2006; 79: 514-523.
    • (2006) Am J Hum Genet , vol.79 , pp. 514-523
    • Zhao, Z.1    Tuakli-Wosornu, Y.2    Lagace, T.A.3    Kinch, L.4    Grishin, N.V.5    Horton, J.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.