GeneSet Information

Tier I GS269096 • GWAS Catalog Data for hemoglobin measurement, hemoglobin A2 measurement in 6,602 Sardinian founder individuals


List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies ( The disease/trait examined in this study, as reported by the authors, was Hemoglobin levels. The EFO term hemoglobin measurement, hemoglobin A2 measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.


GWAS: hemoglobin measurement, hemoglobin A2 measurement









F Danjou, M Zoledziewska, C Sidore, M Steri, F Busonero, A Maschio, A Mulas, L Perseu, S Barella, E Porcu, G Pistis, M Pitzalis, M Pala, S Menzel, S Metrustry, TD Spector, L Leoni, A Angius, M Uda, P Moi, SL Thein, R Galanello, GR Abecasis, D Schlessinger, S Sanna, F Cucca


Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.


Nature genetics Nov 2015, Vol 47, pp. 1264-71


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. PUBMED: 26366553
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Annotation Information

hemoglobin A2 measurement (EFO:0005845)

Gene List • 9 Genes

Uploaded As Gene Symbol Homology Score Priority LinkOuts Emphasis