rs773125

This is a upstream gene variant variant in the SUOX gene.

GWAS Catalog Trait Associations (2)

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

level of sulfite oxidase, mitochondrial in blood

Allele G
OR 0.05
p 1.0e-16
N 47,745
Large GWAS
European

rheumatoid arthritis

Allele A
OR 1.09
p 1.0e-10
N 79,799
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 A
OR 0.09
p 1.0e-9
N 2,308
Large GWAS
multi-ancestry

Research that mentions this SNP (1)

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 &amp; 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

About SUOX

Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]

View all SUOX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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