ArticleNature genetics2015
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.International journal of molecular sciences · 2024Pooled it
- A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.Communications biology · 2021Pooled it
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- A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts.Human molecular genetics · 2025Article
- In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in β-thalassemia.Scientific reports · 2025Article
- Genome-wide association study reveals the underlying regulatory mechanisms of red blood traits in Anadara granosa.BMC genomics · 2024Article
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- The design of mapping populations: Impacts of geographic scale on genetic architecture and mapping efficacy for defense and immunity.Current opinion in plant biology · 2023Review
- Erythroid lineage chromatin accessibility maps facilitate identification and validation of NFIX as a fetal hemoglobin repressor.Communications biology · 2023Article
- Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals.Scientific reports · 2023Article
- Genetic Variation among Pharmacogenes in the Sardinian Population.International journal of molecular sciences · 2022Article
- Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells.Nature genetics · 2022Article
- Challenges and future directions for studying effects of host genetics on the gut microbiome.Nature genetics · 2022Review
- Admixture mapping reveals loci for carcass mass in red deer x sika hybrids in Kintyre, Scotland.G3 (Bethesda, Md.) · 2021Article
- A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.Blood advances · 2021Article
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Authors and funding
26 authors at 8 institutions in 3 countries.
Funding
Abstract
We report genome-wide association study results for the levels of A1, A2 and fetal hemoglobins, analyzed for the first time concurrently. Integrating high-density array genotyping and whole-genome sequencing in a large general population cohort from Sardinia, we detected 23 associations at 10 loci. Five signals are due to variants at previously undetected loci: MPHOSPH9, PLTP-PCIF1, ZFPM1 (FOG1), NFIX and CCND3. Among the signals at known loci, ten are new lead variants and four are new independent signals. Half of all variants also showed pleiotropic associations with different hemoglobins, which further corroborated some of the detected associations and identified features of coordinated hemoglobin species production.
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