Elements of 'missing heritability'

Current Opinion in Cardiology

Volumn 27, Issue 3, 2012, Pages 197-201

  Marian, Ali J ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

epigenetics; epistasis; genome wide association studies; heritability; whole exome sequencing

Indexed keywords

MICRORNA;

ALLELE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC EPISTASIS; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HERITABILITY; HUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSGENE;

ALLELES; EPIGENOMICS; GENE FREQUENCY; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PHENOTYPE;

EID: 84859917347     PISSN: 02684705     EISSN: 15317080     Source Type: Journal    
DOI: 10.1097/HCO.0b013e328352707d     Document Type: Review

References (47)

1. Visscher PM, Hill WG, Wray NR. Heritability in the genomics era: concepts and misconceptions. Nature reviews. Genetics 2008; 9:255-266. (Pubitemid 351399832)
2. Lamon-Fava S, Jimenez D, Christian JC, et al. The NHLBI Twin Study: heritability of apolipoprotein A-I, B, and low density lipoprotein subclasses and concordance for lipoprotein(a). Atherosclerosis 1991; 91:97-106.
3. Goode EL, Cherny SS, Christian JC, et al. Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins. Twin Res Hum Genet 2007; 10:703-711. (Pubitemid 47608003)
4. Sharma P, Middelberg RP, Andrew T, et al. Heritability of left ventricular mass in a large cohort of twins. J Hypertens 2006; 24:321-324. (Pubitemid 43348244)
5. Post WS, Larson MG, Myers RH, et al. Heritability of left ventricular mass: the Framingham Heart Study. Hypertension 1997; 30:1025-1028. (Pubitemid 27476153)
6. Mathias RA, Roy-Gagnon MH, Justice CM, et al. Comparison of year-of-examand age-matched estimates of heritability in the Framingham Heart Study data. BMC Genet 2003; 4(Suppl 1):S36.
7. Bella JN, MacCluer JW, Roman MJ, et al. Heritability of left ventricular dimensions and mass in American Indians: The Strong Heart Study. J Hypertens 2004; 22:281-286. (Pubitemid 38250986)
8. Adams TD, Yanowitz FG, Fisher AG, et al. Heritability of cardiac size: an echocardiographic and electrocardiographic study of monozygotic and dizygotic twins. Circulation 1985; 71:39-44. (Pubitemid 15164760)
9. Lander ES. Initial impact of the sequencing of the human genome. Nature 2011; 470:187-197.
10. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461:747-753.
11. McClellan J, King MC. Genomic analysis of mental illness: a changing landscape. JAMA 2010; 303:2523-2524.
12. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010; 11:415-425.
13. Antonarakis SE, Chakravarti A, Cohen JC, Hardy J. Mendelian disorders and multifactorial traits: the big divide or one for all? Nat Rev Genet 2010 11 380-384.
14. Marian AJ, Belmont J. Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res 2011; 108:1252-1269.
15. Arora P, Newton-Cheh C. Blood pressure and human genetic variation in the general population. Curr Opin Cardiol 2010; 25:229-237.
16. Kathiresan S, Manning AK, Demissie S, et al. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. BMC Med Genet 2007; 8 (Suppl 1):S17.
17. Pirruccello J, Kathiresan S. Genetics of lipid disorders. Curr Opin Cardiol 2010; 25:238-242.
18. Kathiresan S, Melander O, Guiducci C, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 2008; 40:189-197. (Pubitemid 351171402)
19. Sotoodehnia N, Isaacs A, de Bakker PI, et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet 2010; 42:1068-1076.
20. Pfeufer A, Sanna S, Arking DE, et al. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 2009; 41:407-414.
21. Newton-Cheh C, Johnson T, Gateva V, et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009; 41:666-676.
22. Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466:707-713.
23. Spencer C, Hechter E, Vukcevic D, Donnelly P. Quantifying the underestimation of relative risks from genome-wide association studies. PLoS Genet 2011; 7:e1001337.
24. Durbin RM, Abecasis GR, Altshuler DL, et al. A map of human genome variation from population-scale sequencing. Nature 2010; 467:1061-1073.
25. Marth GT, Yu F, Indap AR, et al. The functional spectrum of low-frequency coding variation. Genome Biol 2011; 12:R84
26. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40:695-701. (Pubitemid 351748875)
27. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001; 291:1304-1351. (Pubitemid 32173090)
28. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921. (Pubitemid 32165345)
29. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42:30-35.
30. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42:790-793.
31. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009; 106:19096-19101.
32. Choi M, Scholl UI, Yue P, et al. Kchannel mutations in adrenal aldosteroneproducing adenomas and hereditary hypertension. Science 2011; 331:768-772.
33. Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nature Genet 2011; 43:663-667.
34. Regalado ES, Guo DC, Villamizar C, et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011; 109:680-686.
35. Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature reviews. Genetics 2011; 12:745-755.
36. Ng PC, Levy S, Huang J, et al. Genetic variation in an individual human exome. PLoS Genet 2008; 4:e1000160.
37. Levy S, Sutton G, Ng PC, et al. The diploid genome sequence of an individual human. PLoS Biol 2007; 5:e254.
38. Marian AJ. Nature's genetic gradients and the clinical phenotype. Circ Cardiovasc Genet 2009; 2:537-539.
39. Pritchard JK, Cox NJ. The allelic architecture of human disease genes: common disease-common variant...or not? Hum Mol Genet 2002; 11:2417-2423. (Pubitemid 35174705)
40. Marian AJ. Molecular genetic studies of complex phenotypes. Transl Res 2012; 159:64-79.
41. Zuk O, Hechter E, Sunyaev SR, Lander ES. The mystery of missing heritability: genetic interactions create phantom heritability. Proc Natl Acad Sci U S A 2012; 109:1193-1198.
42. Song YS, Wang F, Slatkin M. General epistatic models of the risk of complex diseases. Genetics 2010; 186:1467-1473.
43. Gu SG, Pak J, Guang S, et al. Amplification of siRNA in Caenorhabditis elegans generates a transgenerational sequence-targeted histone H3 lysine 9 methylation footprint. Nature Genet 2012; 44:157-164.
44. Sato F, Tsuchiya S, Meltzer SJ, Shimizu K. MicroRNAs and epigenetics. FEBS J 2011; 278:1598-1609.
45. Handel AE, Ebers GC, Ramagopalan SV. Epigenetics: molecular mechanisms and implications for disease. Trends Mol Med 2010; 16:7-16.
46. Furrow RE, Christiansen FB, Feldman MW. Environment-sensitive epigenetics and the heritability of complex diseases. Genetics 2011; 189:1377-1387.
47. Talmud PJ, Drenos F, Shah S, et al. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am J Hum Genet 2009; 85:628-642.