A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia
Open accessAbstract
Fetal hemoglobin (HbF) levels are higher in the Arab–Indian (AI) β‐globin gene haplotype of sickle cell anemia compared with African‐origin haplotypes. To study genetic elements that effect HbF expression in the AI haplotype we completed whole genome sequencing in 14 Saudi AI haplotype sickle hemoglobin homozygotes—seven selected for low HbF (8.2% ± 1.3%) and seven selected for high HbF (23.5% ± 2.6%). An intronic single nucleotide polymorphism (SNP) in ANTXR1, an anthrax toxin receptor (chromosome 2p13), was associated with HbF. These results were replicated in two independent Saudi AI haplotype cohorts of 120 and 139 patients, but not in 76 Saudi Benin haplotype, 894 African origin haplotype and 44 AI haplotype patients of Indian origin, suggesting that this association is effective only in the Saudi AI haplotype background. ANTXR1 variants explained 10% of the HbF variability compared with 8% for BCL11A. These two genes had independent, additive effects on HbF and together explained about 15% of HbF variability in Saudi AI sickle cell anemia patients. ANTXR1 was expressed at mRNA and protein levels in erythroid progenitors derived from induced pluripotent stem cells (iPSCs) and CD34+ cells. As CD34+ cells matured and their HbF decreased ANTXR1 expression increased; as iPSCs differentiated and their HbF increased, ANTXR1 expression decreased. Along with elements in cis to the HbF genes, ANTXR1 contributes to the variation in HbF in Saudi AI haplotype sickle cell anemia and is the first gene in trans to HBB that is associated with HbF only in carriers of the Saudi AI haplotype. Am. J. Hematol. 91:1118–1122, 2016. © 2016 Wiley Periodicals, Inc.
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An intronic SNP (rs35685045) in ANTXR1 was associated with HbF in 4 cohorts of adult AI haplotype patients.
“An intronic SNP (rs35685045) in ANTXR1 (TEM8; chr2p13) was associated with HbF in 4 cohorts of adult AI haplotype patients.41,42”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [41]
The Results section identifies rs35685045 as an intronic ANTXR1 SNP associated with HbF, but it does not support association in four AI-haplotype cohorts. The Results report association in the Saudi AI cohorts and explicitly state that it was not found in the Indian AI cohort. (LLM, conf=0.90)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe AI haplotype in Saudi patients is associated with a unique pattern of SNPs in putative cis-acting globin regulatory elements and is linked to a novel variant in ANTXR1.
“The AI haplotype in Saudi patients is associated with a unique pattern of SNPs in putative cis-acting globin regulatory elements and is linked to a novel variant in ANTXR1.40,41”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [41]
The Introduction (page unavailable) describes a unique cis-acting sub-haplotype containing putative functional elements in the AI haplotype, but does not establish the claimed pattern of SNPs in Saudi patients. The Results (page unavailable) identify ANTXR1 SNPs associated with fetal hemoglobin specifically in Saudi AI-haplotype patients; they do not show that the AI haplotype itself is linked to a novel ANTXR1 variant. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThe ANTXR1 variant explained approximately 10% of HbF variability compared with approximately 8% for BCL11A.
“This variant explained ;10% of HbF variability compared with ;8% for BCL11A.”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [41]
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Tozatto‐Maio, K. (2019) · doi:10.70675/92d0b87bz2afdz446dza5bdze7321b6555d7
- Authors
- Vathipadiekal, V., Farrell, J. J., Wang, S., Edward, H. L., Shappell, H., Al‐Rubaish, A. M., Al‐Muhanna, F., Naserullah, Z., Alsuliman, A., Qutub, H. O., Simkin, I., Farrer, L. A., Jiang, Z., Luo, H., Huang, S., Mostoslavsky, G., Murphy, G. J., Patra, P. K., Chui, D. H. K., Alsultan, A., Al‐Ali, A. K., Sebastiani, P., & Steinberg, M. H.
- Affiliations
- Boston University (US)
- Imam Abdulrahman Bin Faisal University (SA)
- Maternity and Children's Hospital (SA)
- King Faisal University (SA)
- Department of Medicine Boston University School of Medicine Boston Massachusetts
- Pt. Jawahar Lal Nehru Memorial Medical College (IN)
- King Saud University (SA)
- Department of Biostatistics Boston University School of Public Health Boston Massachusetts
- Corresponding author
- Steinberg, Martin H.
- ORCID
- Venue
- American Journal of Hematology
- Publisher
- Wiley
- Published
- 2016-08-22
- Volume
- 91
- Issue
- 11
- Pages
- 1118-1122
- ISSN
- 0361-8609 (ISSN-L)
- 1096-8652
- PMC
- PMC5072989
- OpenAlex
- W2516766220
- Semantic Scholar
- b8df98eee231d0368e398d4eb7c6edbd71e1edfc
- Cited by
- 20
- References
- 56
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 4 · 2020: 6 · 2019: 2 · 2018: 3 · 2017: 3
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Hematology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (U01 HL107443, R01 HL 87681, T32 HL007501, T32 GM74905, KL2RR025770)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
- Health Sciences › Medicine › Hematology › Blood groups and transfusion
- Keywords
- fetal hemoglobin, sickle cell disease, ANTXR1, anthrax toxin receptor, BCL11A, beta-globin gene regulation, intronic single nucleotide polymorphism, erythroid progenitor cells, CD34+ cells, induced pluripotent stem cells
- MeSH terms
- Adolescent, Adult, Anemia, Sickle Cell, Carrier Proteins, Child, Child, Preschool, Female, Fetal Hemoglobin, Haplotypes, Humans, Male, Microfilament Proteins, Neoplasm Proteins, Nuclear Proteins, Receptors, Cell Surface, Repressor Proteins, Gene Expression, Arabs, Polymorphism, Single Nucleotide, White People, beta-Globins, Young Adult
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