Interaction between two quantitative trait loci affects fetal haemoglobin expression

Annals of Human Genetics

Volumn 69, Issue 6, 2005, Pages 707-714

  Garner, Chad ^a,b   Menzel, S ^c   Martin, C ^c   Silver, N ^c   Best, S ^c   Spector, T D ^d   Thein, S L ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Epistasis; Fetal haemoglobin; Linkage analysis; Quantitative trait loci; Sib pairs

Indexed keywords

BETA GLOBIN; HEMOGLOBIN F;

ARTICLE; ASIAN; CHROMOSOME 8; DIZYGOTIC TWINS; EUROPE; FETUS; GENE INTERACTION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INDIAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE TRAIT LOCUS;

CHROMOSOMES, HUMAN, PAIR 8; FETAL HEMOGLOBIN; GENETIC MARKERS; GENOTYPE; GLOBINS; HUMANS; LINKAGE (GENETICS); MODELS, GENETIC; POLYMORPHISM, GENETIC; QUANTITATIVE TRAIT LOCI;

EID: 27644597215     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1529-8817.2005.00188.x     Document Type: Article

References (23)

1. Boyer, S. H., Belding, T. K., Margolet, L. & Noyes, A. N. (1975) Fetal haemoglobin restriction to a few erythrocytes (F cells) in normal human adults. Science 188, 361-363.
2. Cardon, L. R. (2000) A sib-pair regression model of linkage disequilibrium for quantitative traits. Hum Hered 50, 350-8.
3. Carey, G. & Williamson, J. A. (1991) Linkage analysis of quantitative traits: increased power by using selected samples. American Journal of Human Genetics 49, 786-796.
4. Cordell, H. J. (2002) Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum Mol Genet 11, 2463-8.
5. Frankel, W. N. & Schork, N. J. (1996) Who's afraid of epistasis? Nature Genetics 14, 371-373.
6. Fulker, D. W., Cardon, L. R., DeFries, J. C., Kimberling, W. J., Pennington, B. F. & Smith, S. D. (1991) Multiple regression analysis of sib-pair data on reading to detect quantitative trait loci. Reading and Writing: An Interdisciplinary Journal 3, 299-313.
7. Fulker, D. W., Cherney, S. S. & Cardon, L. R. (1995) Multipoint interval mapping of quantitative trait loci using sib pairs. American Journal of Human Genetics 56, 1224-1233.
8. Garner, C., Silver, N., Best, S., Menzel, S., Martin, C., Spector, T. D. & Thein, S. L. (2004) Quantitative trait locus on chromosome 8q influences the switch from fetal to adult haemoglobin. Blood 104, 2184-6.
9. Garner, C., Tatu, T., Game, L., Cardon, L. R., Spector, T. D., Farrall, M. & Thein, S. L. (2000a) A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. Genescreen 1, 9-14.
10. Garner, C., Tatu, T., Reittie, J. E., Littlewood, T., Darley, J., Cervino, S., Farrall, M., Kelly, P., Spector, T. D. & Thein, S. L. (20006) Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 95, 342-6.
11. Garner, C. P., Tatu, T., Best, S., Creary, L. & Thein, S. L. (2002) Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal haemoglobin. Am J Hum Genet 70, 793-9.
12. Gγ globin production. Blood 66, 783-787.
13. Ho, P. J., Hall, G. W., Luo, L. Y., Weatherall, D. J. & Thein, S. L. (1998) Beta thalassemia intermedia: is it possible to consistently predict phenotype from genotype? British Journal of Haematology 100, 70-78.
14. Kadonaga, J. T. (1998) Eukaryotic transcription: an interlaced network of transcription factors and chromatin-modifying machines. Cell 92, 307-313.
15. Kruglyak, L. & Lander, E. S. (1995) Complete multipoint sib pair analysis of qualitative and quantitative traits. American Journal of Human Genetics 57, 439-454.
16. Labie, D., Pagnier, J., Lapoumeroulie, C., Rouabhi, F., Dunda-Belkhodja, O., Chardin, P., Beldjord, C., Wajcman, H., Fabry, M. E. & Nagel, R. L. (1985) Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proceedings of the National Academy of Sciences, USA 82, 2111-2114.
17. Miyoshi, K., Kaneto, Y., Kawai, H., Ohchi, H., Niki, S., Hasegawa, K., Shirakami, A. & Yamano, T. (1988) X-linked dominant control of F-cells in normal adult life: Characterization of the Swiss type as hereditary persistence of fetal haemoglobin regulated dominantly by gene(s) on X chromosome. Blood 72, 1854-1860.
18. Pennington, B. (ed) (1991) Reading disabilities: Genetic and neurological influences. Kluwer Academic Press, Boston.
19. Rutland, P. C., Pembrey, M. E. & Davies, T. (1983) The estimation of fetal haemoglobin in healthy adults by radioimmunoassay. British Journal of Haematology 53, 673-682.
20. Sampietro, M., Thein, S. L., Contreras, M. & Pazmany, L. (1992) Variation of HbF and F-cell number with the G-γ Xmn I (C-T) polymorphism in normal individuals. Blood 79, 832-833.
21. Spector, T. D. & MacGregor, AJ (2002) The St. Thomas' UK Adult Twin Registry. Twin Res 5, 440-3.
22. Thein, S. L., Wainscoat, J. S., Sampietro, M., Old, J. M., Cappellini D., Fiorelli, G., Modell, B. & Weatherall, D. J. (1987) Association of thalassaemia intermedia with a beta-globin gene haplotype. British Journal of Haematology 65, 367-373.
23. Wood, W. G. (2001) Hereditary Persistence of Fetal Haemoglobin and Delta Beta Thalassemia. In: R. L. Nagel (ed) Disorders of Haemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, Cambridge, UK, pp 356-388.