rs12711521

This is a variant in the MASP2 gene that changes a aspartate to an tyrosine.

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GWAS Catalog Trait Associations (1)

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

body mass index

Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)

Allele C

OR 0.01

p 1.0e-8

N 526,508

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

6 submitters2 publications

Immunodeficiency due to MASP-2 deficiency; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Polymorphisms in pattern‐recognition genes in the innate immunity system and risk of non‐Hodgkin lymphoma

AssociationN=926Hu W. et al.(2013)· Environmental and Molecular Mutagenesis

Case-control study of 432 NHL cases and 494 controls examining 285 SNPs in 27 pattern-recognition genes. MBP rs8094402 was associated with decreased NHL risk (OR=0.72, p=0.0018), MASP2 rs12711521 with decreased DLBCL risk (OR=0.57, p=0.0042), and DEFB126 rs6054706 with increased FL risk (OR=1.39, p=0.033). Gene-level analysis showed significant association with MBP for overall NHL and MASP2 and DEFB126 for NHL subtypes.

Traits studied:Chronic lymphocytic leukemia/small lymphocytic lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone lymphomaNon-Hodgkin lymphoma

PubMed DOI Metascience Observatory

About MASP2

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]