rs2561477

This is a intron variant variant in the MACIR gene.

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GWAS Catalog Trait Associations (2)

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

educational attainment

Okbay A et al. “Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.” Nature Genetics 54(4):437-449 (2022)

Allele A

OR 0.01

p 1.0e-18

N 3,037,499

Large GWAS

European

rheumatoid arthritis

Okada Y et al. “Genetics of rheumatoid arthritis contributes to biology and drug discovery.” Nature 506(7488):376-381 (2014)

Allele G

OR 1.11

p 2.0e-11

N 79,799

Large GWAS

multi-ancestry

Kim K et al. “High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.” Annals of the Rheumatic Diseases 74(3):e13 (2015)

Allele G

OR 1.11

p 1.0e-9

N 55,089

Large GWAS

multi-ancestry

Laufer VA et al. “Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.” Human Molecular Genetics 28(5):858-874 (2019)

Allele G

OR 0.09

p 6.0e-10

N 2,308

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et al

FunctionalN=16Yumi Tsuchida et al.(2018)· Arthritis & Rheumatology

This functional study integrates epigenomic datasets (ATAC-seq, Hi-C, ChIP-seq, RNA-seq) from fibroblast-like synoviocytes (FLS) to map the functional relevance of 101 fine-mapped rheumatoid arthritis GWAS associations. FLS regulatory elements account for 24% of RA heritability, and the study assigns putative target genes to RA risk loci, identifying TNFAIP3, IFNAR1, CDK6, RBPJ and others as disease-relevant genes. TNF stimulation reveals dynamic chromatin interactions and differential gene expression at RA-associated regulatory regions.

Traits studied:Rheumatoid arthritis

PubMed DOI Metascience Observatory

About MACIR

This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019]

rs2561477

GWAS Catalog Trait Associations (2)

educational attainment

rheumatoid arthritis

Research that mentions this SNP (1)

About MACIR

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