Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
| Title: | Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels |
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| Authors: | Danjou, Fabrice; Zoledziewska, Magdalena; Sidore, Carlo; Steri, Maristella; Busonero, Fabio; Maschio, Andrea; Mulas, Antonella; Perseu, Lucia; Barella, Susanna; Porcu, Eleonora; Pistis, Giorgio; Pitzalis, Maristella; Pala, Mauro; Menzel, Stephan; Metrustry, Sarah; Spector, Timothy D; Leoni, Lidia; Angius, Andrea; Uda, Manuela; Moi, Paolo; Thein, Swee Lay; Galanello, Renzo; Abecasis, Gonçalo R; Schlessinger, David; Sanna, Serena; Cucca, Francesco |
| Source: | Danjou, F, Zoledziewska, M, Sidore, C, Steri, M, Busonero, F, Maschio, A, Mulas, A, Perseu, L, Barella, S, Porcu, E, Pistis, G, Pitzalis, M, Pala, M, Menzel, S, Metrustry, S, Spector, T D, Leoni, L, Angius, A, Uda, M, Moi, P, Thein, S L, Galanello, R, Abecasis, G R, Schlessinger, D, Sanna, S & Cucca, F 2015, 'Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels', Nature Genetics, vol. 47, no. 11, pp. 1264–1271. https://doi.org/10.1038/ng.3307 |
| Publication Year: | 2015 |
| Collection: | King's College, London: Research Portal |
| Description: | 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. |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/26366553 |
| DOI: | 10.1038/ng.3307 |
| Availability: | https://kclpure.kcl.ac.uk/portal/en/publications/022b2c0b-e4f6-4086-92e4-69be76ecf2cd; https://doi.org/10.1038/ng.3307; https://kclpure.kcl.ac.uk/ws/files/56793454/Genome_wide_association_analyses_DANJOU_Accepted_23Apr2015_GREEN_AAM.pdf |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.25B8C2F5 |
| Database: | BASE |