Journal
ANNALS OF HUMAN GENETICS
Volume 69, Issue -, Pages 707-714Publisher
BLACKWELL PUBLISHING
DOI: 10.1111/j.1529-8817.2005.00188.x
Keywords
fetal haemoglobin; linkage analysis; epistasis; sib pairs; quantitative trait loci
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Funding
- MRC [G0000111] Funding Source: UKRI
- Medical Research Council [G0000111] Funding Source: researchfish
- Medical Research Council [G0000111] Funding Source: Medline
- NHLBI NIH HHS [5R01 HL 62959-03] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
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The biological mechanisms controlling complex quantitative traits are likely to be affected by interactions between genetic factors, sometimes referred to as epistasis. The identification of interacting loci through genetic analyse faces many challenges, and few examples of replicated findings of interaction exist for humans and model system organisms. The replication of an interaction, or the non-independence, of two quantitative trait loci (QTL) affecting the developmental switch from the expression of fetal to adult haemoglobin is reported here. Fetal haemoglobin expression in adults is a highly heritable, yet complex, phenotype. Using a sample of 874 dizygotic twin pairs of European descent, we found linkage to a QTL on chromosome 8 to be conditional on the twin pairs' genotypes at a polymorphism in the beta-globin complex; an interaction originally identified in a large Asian Indian kindred. The beta-globin polymorphism has been previously shown to be associated with fetal haemoglobin levels in adults. This study reports the first known replication of a genetic interaction between QTLs influencing a complex human trait.
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