rs26232

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

GWAS Catalog Trait Associations (4)

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

erythrocyte volume

Allele T
OR
p 7.0e-30
N 696,882
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 9.0e-25
N 408,112
Large GWAS
European

mean corpuscular hemoglobin concentration

Allele T
OR
p 3.0e-26
N 630,125
Large GWAS
multi-ancestry

mean corpuscular hemoglobin

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-21
N 478,500
Large GWAS
multi-ancestry

rheumatoid arthritis

Allele T
OR 0.90
p 4.0e-8
N 25,708
Meta-analysisLarge GWAS
European

Research that mentions this SNP (3)

Novel Rheumatoid Arthritis Susceptibility Locus at 22q12 Identified in an Extended UK Genome‐Wide Association Study
AssociationN=8,305Gisela Orozco et al.(2014)· Arthritis &amp; Rheumatology

This extended UK genome-wide association study identified a novel rheumatoid arthritis susceptibility locus at 22q12 (rs1043099, P = 6.9 × 10⁻⁹, OR = 0.84) in 3,034 cases and 5,271 controls, and confirmed 16 previously known RA loci, strengthening evidence for genetic contributors to RA in the UK population.

Traits studied:Rheumatoid arthritis
Allele‐Dose Association of the C5orf30 rs26232 Variant With Joint Damage in Rheumatoid Arthritis
ReviewTeare MD et al.(2013)· Arthritis &amp; Rheumatism

This systematic review identified 49 articles representing 41 frameworks used to evaluate scientific validity in nutrition and/or genetics research. The analysis evaluated frameworks across 11 key factors including study design/quality, generalizability, biological plausibility, effect size, and consistency. The authors propose the Boffetta et al. framework with minor modifications as optimal for evaluating nutrigenetic evidence, classifying results into strong, moderate, or weak categories.

Traits studied:General nutrigenetic traits and diet-gene interactionsJoint damage in rheumatoid arthritis
Most common single‐nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans
AssociationN=1,347Hughes LB et al.(2010)· Arthritis &amp; Rheumatism

This study examined 27 previously identified rheumatoid arthritis (RA) risk alleles in 556 autoantibody-positive African-American RA cases and 791 controls. Twenty-four of 27 SNPs showed consistent odds ratios between African-Americans and Europeans; three SNPs (CCR6 rs3093023, TAGAP rs394581, TNFAIP3 rs6920220) showed opposite directions of effect. A genetic risk score analysis indicated that African-American cases were significantly enriched for European RA risk alleles (p=0.00005), suggesting that RA genetic risk factors are largely shared across ancestry groups.

Traits studied:Rheumatoid arthritis

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]

View all MACIR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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