rs630923

This is a regulatory region variant variant in the CXCR5 gene.

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GWAS Catalog Trait Associations (2)

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

level of serum globulin type protein

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.02

p 3.0e-12

N 325,292

Major Consortium StudyLarge GWAS

multi-ancestry

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)

Allele C

OR 1.07

p 7.0e-9

N 34,366

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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CXCR5 polymorphisms in non-Hodgkin lymphoma risk and prognosis

AssociationN=4,215Bridget Charbonneau et al.(2013)· Cancer Immunology, Immunotherapy

A clinic-based case-control study of 2,694 NHL cases and 1,521 controls found that five of ten CXCR5 tag SNPs were associated with non-Hodgkin lymphoma risk, with rs1790192 showing the strongest association (increased risk of follicular lymphoma). Paradoxically, rs1790192 was also associated with superior event-free survival in follicular lymphoma patients, suggesting different roles of CXCR5 in lymphoma initiation versus progression.

Traits studied:Chronic lymphocytic leukemiaDiffuse large B-cell lymphomaFollicular lymphomaMantle cell lymphomaMarginal zone lymphomaNon-Hodgkin lymphomaPeripheral T-cell lymphomaSmall lymphocytic lymphoma

PubMed DOI Metascience Observatory

About CXCR5

This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]