Quantitative genetic variation: A post-modern view

Human Molecular Genetics

Volumn 13, Issue REV. ISS. 1, 2004, Pages

  Farrall, Martin ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOENZYME; CIS ACTING ELEMENT; TRANS ACTING FACTOR;

ANIMAL GENETICS; EMPIRICISM; EVOLUTIONARY ADAPTATION; EXPERIMENTAL ANIMAL; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE MAPPING; GENE NUMBER; GENETIC CROSS; GENETIC DISORDER; GENETIC LINKAGE; GENETIC MARKER; GENETIC MODEL; GENETIC PROCEDURES; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HERITABILITY; HUMAN; HUMAN GENETICS; MATHEMATICAL MODEL; MOTIVATION; NATURAL POPULATION; NONHUMAN; PATHOPHYSIOLOGY; PLANT GENETICS; PLEIOTROPY; PRIORITY JOURNAL; QUANTITATIVE GENETICS; QUANTITATIVE TRAIT LOCUS MAPPING; REVIEW;

ANIMALS; CHROMOSOME MAPPING; EXONS; HUMANS; INTRONS; PEPTIDYL-DIPEPTIDASE A; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; RATS; VARIATION (GENETICS);

ANIMALIA; MARTES PENNANTI;

EID: 1842474811     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (60)

1. Members of the Complex Trait Consortium (2003) The nature and identification of quantitative trait loci: A community's view. Nat. Rev. Genet., 4, 911-916.
2. Fisher, R.A. (1930) The Genetical Theory of Natural Selection. Oxford University Press, Oxford.
3. Mackay, T.F. (2001) The genetic architecture of quantitative genetics. A. Rev. Genet., 35, 303-339.
4. Robertson, A. (1967) The nature of quantitative genetic variation. In Brink, A. (ed.), Heritage From Mendel. University of Wisconsin, Madison, WI, pp. 265-280.
5. Kimura, M. (1983) The Neutral Theory of Molecular Evolution. Cambridge University Press, Cambridge.
6. Orr, H.A. (1998) The population genetics of adaptation: The distribution of factors fixed during adaptive evolution. Evolution, 52, 935-949.
7. Bost, B., Dillmann, C. and De Vienne, D. (1999) Fuxes and metabolic pools as model traits for quantitative genetics. I. The L-shaped distribution of gene effects. Genetics, 153, 2001-2012.
8. Morton, N.E. and Maclean, C.J. (1974) Analysis of family resemblence. III. Complex segregation of quantitative traits. Am. J. Hum. Genet., 26, 489-503.
9. Morton, N.E. (1998) Significance levels in complex inheritance. Am. J. Hum. Genet., 62, 690-697.
10. Wright, S. (1968) Evolution and the Genetics of Populations. Vol 1: Genetic and Biometric Foundations. University of Chicago Press, Chicago, IL.
11. Collins, A., Maclean, C.J. and Morton, N.E. (1996) Trials of the beta model for complex inheritance. Proc. Natl Acad. Sci. USA, 93, 9177-9181.
12. Lander, E.S. and Botstein, D. (1989) Mapping mendelian factors underlying quantitative traits using RFLP linkage maps. Genetics, 152, 1203-1216.
13. Zeng, Z.-B. (1993) Theoretical basis for separation of multiple linked gene effects in mapping quantitative trait loci. Proc. Natl Acad. Sci. USA, 90, 10972-10976.
14. Xu, S. (2003) Estimating polygenic effects using markers of the entire genome. Genetics, 163, 789-801.
15. Rudan, I., Smolej-Narancic, N., Campbell, H., Carothers, A., Wright, A., Janicijevic, B. and Rudan, P. (2003) Inbreeding and the genetic complexity of human hypertension. Genetics, 163, 1011-1021.
16. Hirschhorn, J.N., Lindgren, C.M., Daly, M.J., Kirby, A., Schaffner, S.F., Burtt, N.P., Altshuler, D., Parker, A., Rioux, J.D., Platko, J. et al. (2001) Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am. J. Hum. Genet., 69, 106-116.
17. Perola, M., Ohman, M., Hiekkalinna, T., Leppavuori, J., Pajukanta, P., Wessman, M., Koskenvuo, M., Palotie, A., Lange, K., Kaprio, J. et al. (2001) Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am. J. Hum. Genet., 69, 117-123.
18. Wiltshire, S., Frayling, T.M., Hattersley, A.T., Hitman, G.A., Walker, M., Levy, J.C., O'Rahilly, S., Groves, C.J., Menzel, S., Carden, L.R. et al. (2002) Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am. J. Hum. Genet., 70, 543-546.
19. Wu, X., Cooper, R.S., Boerwinkle, E., Turner, S.T., Hunt, S., Myers, R., Olshen, R.A., Curb, D., Zhu, X., Kan, D. et al. (2003) Combined analysis of genomewide scans for adult height: Results from the NHLBI Family Blood Pressure Program. Eur. J. Hum. Genet., 11, 271-274.
20. Eaves, L. and Meyer, J. (1994) Locating human quantitative trait loci: Guidelines for the selection of sibling pairs for genotyping. Behav. Genet., 24, 443-455.
21. Risch, N. and Zhang, H. (1995) Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science, 268, 1584-1589.
22. Fullerton, J., Cubin, M., Tiwari, H., Wang, C., Bombra, A., Davidson, S., Miller, S., Fairburn, C., Goodwin, G., Neale, M.C. et al. (2003) Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism. Am. J. Hum. Genet., 72, 879-890.
23. Risch, N. and Merikangas, K. (1996) The future of genetic studies of complex human diseases. Science, 273, 1516-1517.
24. Stam, L.F. and Laurie, C.C. (1996) Molecular dissection of a major gene effect on a quantitative trait: The level of alcohol dehydrogenase expression in Drosophila melanogaster. Genetics, 144, 1559-1564.
25. Barton, N.H. and Keightley, P.D. (2002) Understanding quantitative genetic variation. Nat. Rev. Genet., 3, 11-21.
26. McCarthy, M. (2004) Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification. Hum. Mol. Genet., 13, R33-R41.
27. Vafiadis, P., Bennett, S.T., Todd J.A., Nadeau, J., Grabs, R., Goodyer, C.G., Wickramasinghe, S., Colle, E. and Polychronakos, C. (1997) Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat. Genet., 15, 289-292.
28. Pugliese, A., Zeller, M., Fernandez, A., Jr, Zalcberg, L.J., Bartlett, R.J., Ricordi, C., Pietropaolo, M., Eisenbarth, G.S., Bennett, S.T. and Patel, D.D. (1997) The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat. Genet., 15, 293-297.
29. Winkler, C., An, P. and O'Brien, S.J. (2004) Patterns of ethnic diversity among the genes that influence AIDS. Hum. Mol. Genet., 13, R9-R19.
30. Prokunina, L. and Alarcon-Riquelme, M. (2004) The genetic basis of systemic lupus erythematosis - knowledge of today and thoughts for tomorrow. Hum. Mol. Genet., 13, R143-R148.
31. Botstein, D. and Risch, N. (2003) Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease. Nat. Genet., 33 (suppl.), 228-237.
32. King, M.C. and Wilson, A.C. (1975) Evolution at two levels: molecular similarities and biological differences between humans and chimpanzees. Science, 188, 107-116.
33. Oleksiak, M.F., Churchill, G.A. and Crawford, D.L. (2002) Variation in gene expression within and among natural populations. Nat. Genet., 32, 261-266.
34. Enard, W., Khaitovich, P., Klose, J., Zöllner, S., Heissig, F., Giavalisco, P., Nieselt-Struwe, K., Muchmore, E., Varki, A., Ravid, R. et al. (2002) Intra- and interspecific variation in primate gene expression patterns. Science, 296, 340-343.
35. Olson, M.V. and Varki, A. (2003) Sequencing the chimpanzee genome: Insights into human evolution and disease. Nat. Genet. Rev., 4, 20-28.
36. Cambien, F., Alhenc-Gelas, F., Herbeth, B., Andre, J., Rakotovao, R., Gonzales, M., Allegrini, J. and Bloch, C. (1988) Familial resemblance of plasma angiotensin-converting enzyme level: The Nancy study. Am. J. Hum. Genet., 43, 774-780.
37. Rigat, B., Hubert, C., Alhenc-Gelas, F., Cambien, F., Corvol, P. and Soubrier, F. (1990) An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest., 86, 1343-1346.
38. Tiret, L., Rigat, B., Visvikis, S., Breda, C., Corvol, P., Cambien, F. and Soubrier, F. (1992) Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am. J. Hum. Genet., 51, 197-205.
39. McKenzie, C.A., Julier, C., Forrester, T., McFarlane-Anderson, N., Keavney, B., Lathrop, G.M., Ratcliffe, P.J. and Farrall, M. (1995) Segregation and linkage analysis of serum angiotensin I-converting enzyme levels: Evidence for two quantitative-trait loci. Am. J. Hum. Genet., 57, 1426-1435.
40. Danilov, S., Savoie, F., Lenoir, B., Jeunemaitre, X., Azizi, M., Tarnow, L. and Alhenc-Gelas, F. (1996) Development of enzyme-linked immunoassays for human angiotensin I converting enzyme suitable for large-scale studies. J. Hypertens., 14, 719-727.
41. Challah, M., Villard, E., Philippe, M., Ribadeau-Dumas, A., Janiak, P., Vilaine, J.-P., Soubrier, F. and Michel, J.-B. (1998) Angiotensin I-converting enzyme genotype influences arterial response to injury in normotensive rats. Arterioscl. Throm. Vasc. Biol., 18, 235-243.
42. Villard, E., Tiret, L., Visvikis, S., Rakotovao, R., Cambien, F. and Soubrier, F. (1996) Identification of new polymorphisms of the angiotensin I-converting enzyme (ACE) gene, and study of their relationship to plasma ACE levels by two-QTL segregation-linkage analysis. Am. J. Hum. Genet., 58, 1268-1278.
43. Rieder, M.J., Taylor, S.L., Clark, A.G. and Nickerson, D.A. (1999) Sequence variation in the human angiotensin converting enzyme. Nat. Genet., 22, 59-62.
44. Cox, R., Bouzekri, N., Martin, S., Southam, L., Hugill, A., Golamaully, M., Cooper, R., Adeyemo, A., Soubrier, F., Ward, R. et al. (2002) Angiotensin-1 converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides. Hum. Mol. Genet., 11, 2969-2977.
45. Keavney, B., McKenzie, C.A., Connell, J.M.C., Julier, C., Ratcliffe, P.J., Sobel, E., Lathrop, M. and Farrall, M. (1998) Measured haplotype analysis of the angiotensin-1 converting enzyme (ACE) gene. Hum. Mol. Genet., 7, 1745-1751.
46. Farrall, M., Keavney, B., McKenzie, C., Delephine, M., Matsuda, F. and Lathrop, G.M. (1999) Fine-mapping of an ancestral recombination breakpoint in the human angiotensin-1 converting enzyme (ACE) gene. Nat. Genet., 23, 270-271.
47. Soubrier, F., Martin, S., Alonso, A., Visvikis, S., Tiret, L., Matsuda, F., Lathrop, G.M. and Farrall, M. (2002) High-resolution genetic mapping of the ACE-linked QTL influencing circulating ACE activity. Eur. J. Hum. Genet., 10, 553-561.
48. McKenzie, C.A., Abecasis, G.R., Keavney, B., Forrester, T., Ratcliffe, P.J, Julier, C., Connell, J.M.C., Bennett, F., McFarlane-Anderson, N., Lathrop, G.M. et al. (2001) Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). Hum. Mol. Genet., 10, 1077-1084.
49. Zhu, X., Bouzekri, N., Southam, L., Cooper, R.S., Adeyemo, A., McKenzie, C.A., Luke, A., Chen, G., Elston, R.C. and Ward, R. (2001) Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure. Am. J. Hum. Genet., 68, 1139-1148.
50. Jansen, R.C. and Nap, J.P. (2001) Genetical genomics: The added value from segregation. Trends Genet., 17, 388-391.
51. Brem, R.B., Yvert, G., Clinton, R. and Kruglyak, L. (2002) Genetic dissection of transcriptional regulation in budding yeast. Science, 296, 752-755.
52. Schadt, E.E., Monks, S.A., Drake, T.A., Lusis, A.J., Che, N., Colinayo, V., Ruff, T.G., Milligan, S.B., Lamb, J.R., Cavet, G. et al. (2003) Genetics of gene expression surveyed in maize, mouse and man. Nature, 422, 297-302.
53. Karp, C.L., Grupe, A., Schadt, E., Ewart, S.L., Keane-Moore, M., Cuomo, P.J., Kohl, J., Wahl, L., Kuperman, D., Germer, S. et al. (2000) Identification of complement factor 5 as a susceptibility locus for experimental allergic asthma. Nat. Immunol., 1, 221-226.
54. Rocha, J.L., Siewedt, F., Van Vleck, L.D., Eisen, E.J. and Pomp, D. (2002) Lessons regarding the genetic nature of continuous variation. In 7th World Congress on Genetics Applied to Livestock Production, abstract 21-27.
55. Tilstone, C. (2003) DNA microarrays: Vital statistics. Nature, 424, 610-612.
56. Yvert, G., Brem, R.B., Whittle, J., Akey, J.M., Foss, E., Smith, E.N., Mackelprang, R. and Kruglyak, L. (2003) Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors. Nat. Genet., 35, 57-64.
57. Zhang, Y., Leaves, N.I., Anderson, G.G., Ponting, C.P., Broxholme, J., Holt, R., Edser, P., Bhattacharyya, S., Dunham, A., Adcock, I.M. et al. (2003) Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. Nat. Genet., 34, 181-186.
58. Yan, H., Yuan, W., Velculescu, V.E., Vogelstein, B. and Kinzler, K.W. (2002) Allelic variation in human gene expression. Science, 297, 1143.
59. Knight, J.C., Keating, B.J., Rockett, K.A. and Kwiatkowski, D.P. (2003) In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat. Genet., 33, 469-475.
60. Le Corvoisier, P., Park, H.-Y., Carlson, K.M., Marchuk, D.A. and Rockman, H.A. (2003) Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Hum. Mol. Genet., 12, 3097-3107.