rs61752717

This is a variant in the MEFV gene that changes a methionine to an leucine.

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GWAS Catalog Trait Associations (1)

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

ankylosing spondylitis

Li Z et al. “Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.” Plos Genetics 15(4):e1008038 (2019)

Allele C

OR 4.76

p 2.0e-12

N 3,004

Large GWAS

multi-ancestry

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ClinVar annotation

Uncertain Significance★☆☆☆

55 submitters35 publications

Familial Mediterranean fever (FMF)

View on ClinVar →

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Research that mentions this SNP (2)

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The association between MEFV gene polymorphisms and Henoch–Schönlein purpura, and additional SNP–SNP interactions in Chinese Han children

AssociationN=662Shunjun Xiong et al.(2017)· Rheumatology International

This case-control study of 662 Chinese Han children (320 HSP patients, 342 controls) identified a significant association between MEFV gene polymorphism rs3743930 and Henoch-Schönlein purpura (HSP) risk, with homozygous CC carriers showing OR=1.55 (95% CI: 1.23-1.85) compared to wild-type GG. GMDR analysis revealed a significant two-locus SNP-SNP interaction model between rs3743930 and rs28940580 (p=0.0107), where individuals with rs3743930 GC/CC and rs28940580 GA/AA genotypes had the highest HSP risk with OR=2.13 (95% CI: 1.52-2.89).

Traits studied:Henoch-Schönlein purpura

PubMed DOI Metascience Observatory

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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population

AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies

PubMed DOI Metascience Observatory

About MEFV

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]