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

Autor: Swee Lay Thein, Pinar Ulug, Lisa E. Creary, Colin A. McKenzie, Martin Farrall, Stephan Menzel, Terrence Forrester, Veronica Taylor, Neil A. Hanchard
Jazyk: angličtina
Rok vydání: 2008
Předmět:
General Science & Technology
Population
European Continental Ancestry Group
Black People
lcsh:Medicine
Single-nucleotide polymorphism
Locus (genetics)
Anemia
Sickle Cell
Genetics and Genomics/Complex Traits
Quantitative trait locus
Biology
Polymorphism
Single Nucleotide
White People
03 medical and health sciences
0302 clinical medicine
Tropical medicine
Genetics and Genomics/Population Genetics
Genetic variation
MD Multidisciplinary
Humans
Allele
lcsh:Science
education
Genetics and Genomics/Genetics of Disease
Fetal Hemoglobin
030304 developmental biology
African Continental Ancestry Group
Genetics
0303 health sciences
education.field_of_study
Multidisciplinary
Science & Technology
Genetics (medical sciences)
lcsh:R
Haplotype
Genetic Variation
Tag SNP
Multidisciplinary Sciences
030220 oncology & carcinogenesis
Science & Technology - Other Topics
lcsh:Q
Chromosomes
Human
Pair 6
Hematology/Hemoglobinopathies
Haematology
Research Article
Zdroj: PLoS ONE, Vol 4, Iss 1, p e4218 (2009)
King's College London
PLoS ONE
Popis: 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.
Databáze: OpenAIRE
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