rs2556378

This variant is located in the BCL11A gene.

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GWAS Catalog Trait Associations (3)

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

benign prostatic hyperplasia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 1.0e-28
N 382,363
Major Consortium StudyLarge GWAS
European

prostate specific antigen amount

Gudmundsson J et al. “Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.” Nature Communications 9(1):4568 (2018)
Allele T
OR —
β 0.044
p 5.0e-8
N 33,572
Large GWAS
European
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Research that mentions this SNP (1)

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Genome‐wide association study in German patients with attention deficit/hyperactivity disorder
AssociationN=1,795Anke Hinney et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A genome-wide association study in 495 German ADHD patients and 1,300 population-based controls identified 30 independent SNPs with p-values below 7.57×10^-5 for replication testing. The best SNP (rs2556378 in BCL11A, p=8.38×10^-7, OR=1.61) and second-best SNP (rs5016282 in GRM5, p=1.78×10^-6, OR=1.85) showed directionally consistent effects in replication families (n=320) and meta-analysis, but no genome-wide significant results (p<5×10^-8) were achieved despite high ADHD heritability.

Traits studied:Attention Deficit/Hyperactivity Disorder (ADHD)
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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