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Genetic variation on chromosone 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients

Genetic variation on chromosone 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients
Genetic variation on chromosone 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients
Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. Single nucleotide polymorphisms (SNPs) in a 24-kb intergenic region, 33-kb upstream of the HBS1L gene and 80-kb upstream of the MYB gene, were typed in 177 healthy Afro-Caribbean subjects (AC) of approximately 7% European admixture, 631 healthy Afro-Germans (AG, a group of African and German descendents located in rural Jamaica with about 20% European admixture), 87 West African and Afro-Caribbean individuals with sickle cell anaemia (HbSS), as well as 75 Northern Europeans, which served as a contrasting population. Association with a tag SNP for the locus was detected in all four groups (AC, P = 0.005, AG, P = 0.002, HbSS patients, P = 0.019, Europeans, P = 1.5 x 10(-7)). The association signal varied across the interval in the African-descended groups, while it is more uniform in Europeans. The 6q QTL for HbF traits is present in populations of African origin and is also acting in sickle cell anaemia patients. We have started to distinguish effects originating from European and African ancestral populations in our admixed study populations
1932-6203
Creary, Lisa E.
414eb1fd-6397-4898-a43f-dc35943dc1cf
Ulug, Pinar
4900bdf6-8104-4240-ae65-f61fdea5ef79
Menzel, Stephan
5c8f3f55-d218-4f7f-8ef2-0fd0ea13d44c
McKenzie, Colin A.
c3c47143-2635-4436-b168-0d911d08825f
Hanchard, Neil A.
cd9bbf22-9bc0-4644-91de-7f0510c6491d
Taylor, Veronica
8dedb6fd-a7e2-4e53-9f4a-d2a1c58ff1db
Farrall, Martin
0991d3b8-effa-4c97-8c62-76064361edb6
Forrester, Terrence E.
d5ed0294-0713-4521-baf9-923f1cae5e7f
Thien, Swee Lay
a06fbe89-2abe-4e0a-90f8-b88a535d109c
Creary, Lisa E.
414eb1fd-6397-4898-a43f-dc35943dc1cf
Ulug, Pinar
4900bdf6-8104-4240-ae65-f61fdea5ef79
Menzel, Stephan
5c8f3f55-d218-4f7f-8ef2-0fd0ea13d44c
McKenzie, Colin A.
c3c47143-2635-4436-b168-0d911d08825f
Hanchard, Neil A.
cd9bbf22-9bc0-4644-91de-7f0510c6491d
Taylor, Veronica
8dedb6fd-a7e2-4e53-9f4a-d2a1c58ff1db
Farrall, Martin
0991d3b8-effa-4c97-8c62-76064361edb6
Forrester, Terrence E.
d5ed0294-0713-4521-baf9-923f1cae5e7f
Thien, Swee Lay
a06fbe89-2abe-4e0a-90f8-b88a535d109c

Creary, Lisa E., Ulug, Pinar, Menzel, Stephan, McKenzie, Colin A., Hanchard, Neil A., Taylor, Veronica, Farrall, Martin, Forrester, Terrence E. and Thien, Swee Lay (2009) Genetic variation on chromosone 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS ONE, 4 (1). (doi:10.1371/journal.pone.0004218).

Record type: Article

Abstract

Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. Single nucleotide polymorphisms (SNPs) in a 24-kb intergenic region, 33-kb upstream of the HBS1L gene and 80-kb upstream of the MYB gene, were typed in 177 healthy Afro-Caribbean subjects (AC) of approximately 7% European admixture, 631 healthy Afro-Germans (AG, a group of African and German descendents located in rural Jamaica with about 20% European admixture), 87 West African and Afro-Caribbean individuals with sickle cell anaemia (HbSS), as well as 75 Northern Europeans, which served as a contrasting population. Association with a tag SNP for the locus was detected in all four groups (AC, P = 0.005, AG, P = 0.002, HbSS patients, P = 0.019, Europeans, P = 1.5 x 10(-7)). The association signal varied across the interval in the African-descended groups, while it is more uniform in Europeans. The 6q QTL for HbF traits is present in populations of African origin and is also acting in sickle cell anaemia patients. We have started to distinguish effects originating from European and African ancestral populations in our admixed study populations

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Published date: 16 January 2009

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Local EPrints ID: 79357
URI: http://eprints.soton.ac.uk/id/eprint/79357
ISSN: 1932-6203
PURE UUID: 10700e0f-7498-4ecc-b3f8-f5b71343bc56

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Date deposited: 15 Mar 2010
Last modified: 14 Mar 2024 00:29

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Contributors

Author: Lisa E. Creary
Author: Pinar Ulug
Author: Stephan Menzel
Author: Colin A. McKenzie
Author: Neil A. Hanchard
Author: Veronica Taylor
Author: Martin Farrall
Author: Terrence E. Forrester
Author: Swee Lay Thien

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