The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults
Open accessAbstract
Individual variation in fetal hemoglobin (HbF, α 2 γ 2 ) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and β thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred with β thalassemia to a 1.5-Mb interval on chromosome 6q23, but the causative gene(s) are not known. The QTL encompasses several genes including HBS1L , a member of the GTP-binding protein family that is expressed in erythroid progenitor cells. In this high-resolution association study, we have identified multiple genetic variants within and 5′ to HBS1L at 6q23 that are strongly associated with F cell levels in families of Northern European ancestry ( P = 10 −75 ). The region accounts for 17.6% of the F cell variance in northern Europeans. Although mRNA levels of HBS1L and MYB in erythroid precursors grown in vitro are positively correlated, only HBS1L expression correlates with high F cell alleles. The results support a key role for the HBS1L -related genetic variants in HbF control and illustrate the biological complexity of the mechanism of 6q QTL as a modifier of fetal hemoglobin levels in the β hemoglobinopathies.
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Rees, D. C., Williams, T. N., & Gladwin, M. T. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61029-x · Cited by 2,504
Mapping complex disease traits with global gene expression
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Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
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Metadata
- Authors
- 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.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2007-07-03
- Volume
- 104
- Issue
- 27
- Pages
- 11346-11351
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2012020901
- Cited by
- 314
- References
- 29
- FWCI
- 7.90
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. https://app.cochat.ai/papers/10.1073/pnas.0611393104
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- 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. https://doi.org/10.1073/pnas.0611393104
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