Ethnic differences in F cell levels in Jamaica: A potential tool for identifying new genetic loci controlling fetal haemoglobin

British Journal of Haematology

Volumn 144, Issue 6, 2009, Pages 954-960

  Creary, Lisa E ^a   McKenzie, Colin A ^b   Menzel, Stephan ^a   Hanchard, Neil A ^b   Taylor, Veronica ^c   Hambleton, Ian ^d   Spector, Tim D ^e   Forrester, Terrence E ^b   Thein, Swee Lay ^a,f  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF THE WEST INDIES   (Jamaica)

^c National Blood Transfusion Service   (Jamaica)

^d UNIVERSITY OF THE WEST INDIES   (Jamaica)

^e ST THOMAS HOSPITAL   (United Kingdom)

^f KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Admixture linkage disequilibrium mapping; F cells; Fetal haemoglobin

Indexed keywords

HEMOGLOBIN F;

ADULT; ARTICLE; CELL STRAIN F; CONTROLLED STUDY; ERYTHROCYTE; ERYTHROCYTE LEVEL; ETHNIC DIFFERENCE; FEMALE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENOTYPE; HUMAN; HUMAN CELL; JAMAICA; MALE; NORMAL HUMAN; PRIORITY JOURNAL;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; CELL COUNT; CONTINENTAL POPULATION GROUPS; ERYTHROCYTES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FETAL HEMOGLOBIN; FLOW CYTOMETRY; GENOTYPE; GREAT BRITAIN; HUMANS; JAMAICA; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 60649097215     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07532.x     Document Type: Article

References (44)

1. Beldjord, C., Ducrocq, R., Nadifi, S., Lapoumeroulie, C., Elion, J. Labie, D. (1992) A haplotype-linked four base pair deletion upstream of the A γ globin gene coincides with decreased gene expression. Human Genetics, 89, 625 628.
2. Benn-Torres, J., Bonilla, C., Robbins, C.M., Waterman, L., Moses, T.Y., Hernandez, W., Santos, E.R., Bennett, F., Aiken, W., Tullock, T., Coard, K., Hennis, A., Wu, S., Nemesure, B., Leske, M.C., Freeman, V., Carpten, J. Kittles, R.A. (2008) Admixture and population stratification in African Caribbean populations. Annals of Human Genetics, 72, 90 98.
3. Bland, J.M. Altman, D.G. (1986) Statistical methods for assessing agreement between two methods of clinical measurement. Lancet, 1, 307 310.
4. Boyer, S.H., Belding, T.K., Margolet, L. Noyes, A.N. (1975) Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults. Science, 188, 361 363.
5. Chakraborty, R. Weiss, K.M. (1988) Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proceedings of the National Academy of Sciences of the United States of America, 85, 9119 9123.
6. Craig, J.E., Sheerin, S.M., Barnetson, R. Thein, S.L. (1993) The molecular basis of HPFH in a British family identified by heteroduplex formation. British Journal of Haematology, 84, 106 110.
7. Dover, G.J., Smith, K.D., Chang, Y.C., Purvis, S., Mays, A., Meyers, D.A., Sheils, C. Serjeant, G. (1992) Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood, 80, 816 824.
8. 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.
9. Garner, C., Tatu, T., Reittie, J.E., Littlewood, T., Darley, J., Cervino, S., Farrall, M., Kelly, P., Spector, T.D. Thein, S.L. (2000b) Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood, 95, 342 346.
10. 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 hemoglobin. Blood, 104, 2184 2186.
11. Garner, C., Menzel, S., Martin, C., Silver, N., Best, S., Spector, T.D. Thein, S.L. (2005) Interaction between two quantitative trait loci affects fetal haemoglobin expression. Annals of Human Genetics, 69, 707 714.
12. Gγ globin production. Blood, 66, 783 787.
13. Aγ expression in adults. British Journal of Haematology, 68, 455 458.
14. Halder, I. Shriver, M.D. (2003) Measuring and using admixture to study the genetics of complex diseases. Human Genomics, 1, 52 62.
15. Hanchard, N.A., Hambleton, I., Harding, R.M. McKenzie, C.A. (2005) The frequency of the sickle allele in Jamaica has not declined over the last 22 years. British Journal Haematology, 130, 939 942.
16. Hanchard, N.A., Hambleton, I., Harding, R.M. McKenzie, C.A. (2006) Predicted declines in sickle allele frequency in Jamaica using empirical data. American Journal of Hematology, 81, 817 823.
17. Lettre, G., Sankaran, V.G., Bezerra, M.A., Araujo, A.S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F.F., Hirschhorn, J.N. Orkin, S.H. (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America, 105, 11869 11874.
18. Lin, L.I. (1989) A concordance correlation coefficient to evaluate reproducibility. Biometrics, 45, 255 268.
19. Lin, L.I. (2000) Correction: a note on the concordance correlation coefficient. Biometrics, 56, 324 325.
20. McKeigue, P.M. (1997) Mapping genes underlying ethnic differences in disease risk by linkage disequilibrium in recently admixed populations. American Journal of Human Genetics, 60, 188 196.
21. Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., Best, S., Spector, T.D., Farrall, M., Lathrop, M. Thein, S.L. (2007a) A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genetics, 39, 1197 1199.
22. Menzel, S., Jiang, J., Silver, N., Gallagher, J., Cunningham, J., Surdulescu, G., Lathrop, M., Farrall, M., Spector, T.D. Thein, S.L. (2007b) The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood, 110, 3624 3626.
23. 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 hemoglobin regulated dominantly by gene(s) on X chromosome. Blood, 72, 1854 1860.
24. Parra, E.J., Marcini, A., Akey, J., Martinson, J., Batzer, M.A., Cooper, R., Forrester, T., Allison, D.B., Deka, R., Ferrell, R.E. Shriver, M.D. (1998) Estimating African American admixture proportions by use of population-specific alleles. American Journal of Human Genetics, 63, 1839 1851.
25. Pasvol, G., Weatherall, D.J. Wilson, R.J. (1977) Effects of foetal haemoglobin on susceptibility of red cells to Plasmodium falciparum. Nature, 270, 171 173.
26. 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.
27. Sampietro, M., Thein, S.L., Contreras, M. Pazmany, L. (1992) Variation of HbF and F-cell number with the G-gamma Xmn I (C-T) polymorphism in normal individuals. Blood, 79, 832 833.
28. Serjeant, B.E., Forbes, M., Williams, L.L. Serjeant, G.R. (1974) Screening cord bloods for detection of sickle cell disease in Jamaica. Clinical Chemistry, 20, 666 669.
29. Shear, H.L., Grinberg, L., Gilman, J., Fabry, M.E., Stamatoyannopoulos, G., Goldberg, D.E. Nagel, R.L. (1998) Transgenic mice expressing human fetal globin are protected from malaria by a novel mechanism. Blood, 92, 2520 2526.
30. Shriver, M.D., Parra, E.J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., Baron, A., Jackson, T., Argyropoulos, G., Jin, L., Hoggart, C.J., McKeigue, P.M. Kittles, R.A. (2003) Skin pigmentation, biogeographical ancestry and admixture mapping. Human Genetics, 112, 387 399.
31. Smith, M.W., Patterson, N., Lautenberger, J.A., Truelove, A.L., McDonald, G.J., Waliszewska, A., Kessing, B.D., Malasky, M.J., Scafe, C., Le, E., De Jager, P.L., Mignault, A.A., Yi, Z., De The, G., Essex, M., Sankale, J.L., Moore, J.H., Poku, K., Phair, J.P., Goedert, J.J., Vlahov, D., Williams, S.M., Tishkoff, S.A., Winkler, C.A., De La Vega, F.M., Woodage, T., Sninsky, J.J., Hafler, D.A., Altshuler, D., Gilbert, D.A., O'Brien, S.J. Reich, D. (2004) A high-density admixture map for disease gene discovery in African Americans. American Journal of Human Genetics, 74, 1001 1013.
32. Spector, T.D. MacGregor, A.J. (2002) The St. Thomas' UK Adult Twin Registry. Twin Research, 5, 440 443.
33. Stamatoyannopoulos, G., Wood, W.G. Papayannopoulou, T. (1975) A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait. Blood, 46, 683 692.
34. Steinberg, M.H., Forget, B.G., Higgs, D.R. Nagel, R.L. (eds 2001) Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, Cambridge.
35. Tatu, T. (2001) Genetic Basis of HbF and F Cell Production in Human Adults. Faculty of Clinical Medicine, Oxford University. PhD. 237 Pages.
36. Thein, S.L., Menzel, S., Peng, X., Best, S., Jiang, J., Close, J., Silver, N., Gerovasilli, A., Ping, C., Yamaguchi, M., Wahlberg, K., Ulug, P., Spector, T.D., Garner, C., Matsuda, F., Farrall, M. Lathrop, M. (2007) Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proceedings of the National Academy of Sciences of the United States of America, 104, 11346 11351.
37. Thorisson, G.A., Smith, A.V., Krishnan, L. Stein, L.D. (2005) The International HapMap Project Web site. Genome Research, 15, 1592 1593.
38. Thorpe, S.J., Thein, S.L., Sampietro, M., Craig, J.E., Mahon, B. Huehns, E.R. (1994) Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis. British Journal of Haematology, 87, 125 132.
39. Tian, C., Hinds, D.A., Shigeta, R., Kittles, R., Ballinger, D.G. Seldin, M.F. (2006) A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping. American Journal of Human Genetics, 79, 640 649.
40. Tortello, R. (2004) The People Who Came, the Arrival of the Germans. Jamaican Gleaner, Kingston.
41. Uda, M., Galanello, R., Sanna, S., Lettre, G., Sankaran, V.G., Chen, W., Usala, G., Busonero, F., Maschio, A., Albai, G., Piras, M.G., Sestu, N., Lai, S., Dei, M., Mulas, A., Crisponi, L., Naitza, S., Asunis, I., Deiana, M., Nagaraja, R., Perseu, L., Satta, S., Cipollina, M.D., Sollaino, C., Moi, P., Hirschhorn, J.N., Orkin, S.H., Abecasis, G.R., Schlessinger, D. Cao, A. (2008) Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proceedings of the National Academy of Sciences of the United States of America, 105, 1620 1625.
42. Weatherall, D.J. Clegg, J.B. (1981) The Thalassaemia Syndromes. Blackwell Scientific, Oxford.
43. White, H. (1982) Maximum likelihood estimation of misspecified models. Econometrica, 50, 1 25.
44. Wood, W.G., Stamatoyannopoulos, G., Lim, G. Nute, P.E. (1975) F-cells in the adult: normal values and levels in individuals with hereditary and acquired elevations of Hb F. Blood, 46, 671 682.