rs766432

This variant is located in the BCL11A gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

erythrocyte attribute

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.08
p 2.0e-13
N 30,485
Large GWAS
European

reticulocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 2.0e-12
N 170,548
Large GWAS
European

hemoglobin A2 measurement

Griffin PJ et al. “The genetics of hemoglobin A2 regulation in sickle cell anemia.” American Journal of Hematology 89(11):1019-23 (2014)
Allele C
OR —
p 3.0e-10
N 618
Small GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E
AssociationN=792Manit Nuinoon et al.(2010)· Human Genetics

A genome-wide association study identified 23 SNPs in three independent regions significantly associated with disease severity in β0-thalassemia/hemoglobin E disease. The strongest associations were with rs2071348 in the β-globin cluster (P = 2.96 × 10⁻¹³, OR = 4.33), rs9376092 in HBS1L-MYB intergenic region (P = 2.36 × 10⁻¹⁰, OR = 3.07), and rs766432 in BCL11A (P = 5.87 × 10⁻¹⁰, OR = 3.06). These genetic variants influence fetal hemoglobin levels, a major disease severity modifier, and findings were replicated in an independent Indonesian cohort.

Traits studied:Erythrocyte countFetal hemoglobin (HbF) levelsHbA2 levelHbE levelHemoglobin levelMonocyte countPlatelet countβ0-thalassemia/hemoglobin E disease severity
PubMedDOIMetascience Observatory

About BCL11A

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all BCL11A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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