Metabolic traits as intermediate phenotypes

Genetics Meets Metabolomics: From Experiment to Systems Biology

Volumn , Issue , 2014, Pages 255-264

  Kronenberg, Florian ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84929287746     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-1689-0_15     Document Type: Chapter

References (34)

1. Kronenberg F, Heid IM (2007) Genetik intermediärer Phänotypen. Medizinische Genetik 19:304-308
2. Prentice RL (1989) Surrogate endpoints in clinical trials: definition and operational criteria. Stat Med 8:431-440
3. Baron RM, Kenny DA (1986) The moderator-mediator variable distinction in social psychological research: conceptual, strategic, and statistical considerations. J Pers Soc Psychol 51:1173-1182
4. Gottesman II, Gould TD (2003) The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 160:636-645
5. Kiechl S, Willeit J, The Bruneck Study Group (1999) The natural course of atherosclerosis. Part I: incidence and progression. Arterioscler Thromb Vasc Biol 19:1484-1490
6. Kiechl S, Willeit J, The Collaborative Study Group (1999) The natural course of atherosclerosis. Part II: vascular remodeling. Arterioscler Thromb Vasc Biol 19:1491-1498
7. Lamina C, Meisinger C, Heid IM et al (2006) Association of ankle-brachial index and plaques in the carotid and femoral arteries with cardiovascular events and total mortality in a population- based study with 13-years of follow-up. Eur Heart J 27:2580-2587
8. Suhre K, Wallaschofski H, Raffler J et al (2011) A genome-wide association study of metabolic traits in human urine. Nat Genet 43:565-569
9. Illig T, Gieger C, Zhai G et al (2010) A genomewide perspective of genetic variation in human metabolism. Nat Genet 42:137-141
10. Gieger C, Geistlinger L, Altmaier E et al (2008) Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. PLoS Genet 4:1000282
11. Kathiresan S, Melander O, Guiducci C et al (2008) Six new loci associated with blood lowdensity lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 40:189-197
12. Aulchenko YS, Ripatti S, Lindquist I et al (2009) Loci in fluencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 41:47-55
13. Teslovich TM, Musunuru K, Smith AV et al (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466:707-713
14. WTCCC (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678
15. Kronenberg F (2010) Association of bilirubin with cardiovascular outcomes: more hype than substance? Circ Cardiovasc Genet 3:308-310
16. Hunt SC, Wu LL, Hopkins PN, Williams RR (1996) Evidence for a major gene elevating serum bilirubin concentration in Utah pedigrees. Arterioscler Thromb Vasc Biol 16:912-917
17. Kronenberg F, Coon H, Gutin A et al (2002) A genome scan for loci in fluencing anti- atherogenic serum bilirubin levels. Eur J Hum Genet 10:539-546
18. Lin JP, Cupples LA, Wilson PW, Heard-Costa N, O'Donnell CJ (2003) Evidence for a gene in fluencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study. Am J Hum Genet 72:1029-1034
19. Lin J-P, Schwaiger JP, Cupples LA et al (2009) Conditional linkage and genome-wide association studies identify UGT1A1 as major gene for anti-atherogenic serum bilirubin levels - a Framingham Heart Study. Atherosclerosis 206:228-233
20. Bosma PJ, Chowdhury JR, Bakker C et al (1995) The genetic basis of the reduced expression of bilirubin UDP- glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333: 1171-1175
21. Lin J-P, O'Donnell CJ, Schwaiger JP et al (2006) Association between the UGT1A1∗28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study. Circulation 114:1476-1481
22. Lingenhel A, Kollerits B, Schwaiger JP et al (2008) Serum bilirubin levels, UGT1A1 polymorphisms and risk for coronary artery disease. Exp Gerontol 43:1102-1107
23. Rantner B, Kollerits B, Anderwald-Stadler M et al (2008) Association between the UGT1A1 TA-repeat polymorphism and bilirubin concentration in patients with intermittent claudication: results from the CAVASIC Study. Clin Chem 54:851-857
24. Katan MB (1986) Apolipoprotein E isoforms, serum cholesterol, and cancer. Lancet 1:507-508
25. Davey SG, Ebrahim S (2003) 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol 32:1-22
26. Sandholzer C, Saha N, Kark JD et al (1992) Apo(a) isoforms predict risk for coronary heart disease: a study in six populations. Arterioscler Thromb 12:1214-1226
27. Kronenberg F, Kronenberg MF, Kiechl S et al (1999) Role of lipoprotein(a) and apolipoprotein(a) phenotype in atherogenesis: prospective results from the Bruneck Study. Circulation 100:1154-1160
28. Erqou S, Thompson A, Di AE et al (2010) Apolipoprotein(a) isoforms and the risk of vascular disease: systematic review of 40 studies involving 58,000 participants. J Am Coll Cardiol 55:2160-2167
29. Erqou S, Kaptoge S, Perry PL et al (2009) Lipoprotein(a) concentration and the risk of coronary heart disease, stroke, and nonvascular mortality. JAMA 302:412-423
30. Kamstrup PR, Tybjaerg-Hansen A, Steffensen R, Nordestgaard BG (2009) Genetically elevated lipoprotein(a) and increased risk of myocardial infarction. JAMA 301:2331-2339
31. Kronenberg F (2004) Epidemiology, pathophysiology and therapeutic implications of lipoprotein(a) in kidney disease. Expert Rev Cardiovasc Ther 2:729-743
32. Kraft HG, Köchl S, Menzel HJ, Sandholzer C, Utermann G (1992) The apolipoprotein(a) gene: a transcribed hypervariable locus controlling plasma lipoprotein(a) concentration. Hum Genet 90:220-230
33. Kraft HG, Lingenhel A, Köchl S et al (1996) Apolipoprotein(a) Kringle IV repeat number predicts risk for coronary heart disease. Arterioscler Thromb Vasc Biol 16:713-719
34. Schunkert H, Konig IR, Kathiresan S et al (2011) Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 43:333-338