rs2038823

This variant is located in the HS6ST3 gene.

GWAS Catalog Trait Associations (1)

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

diabetic retinopathy

Allele C
OR
p 5.0e-11
N 853
Small GWAS
East Asian

Research that mentions this SNP (1)

Identification of the oxidative stress–related gene MSRA as a rheumatoid arthritis susceptibility locus by genome‐wide pathway analysis
AssociationN=4,316Jose‐Ezequiel Martín et al.(2010)· Arthritis &amp; Rheumatism

This genome-wide pathway analysis study identified MSRA (rs10903323) as a novel rheumatoid arthritis susceptibility locus through pathway prioritization of previous GWAS data. In a combined analysis of 1,818 RA patients and 2,498 controls, rs10903323 was associated with RA (P = 3.19 × 10⁻⁴, OR 1.28), while rs12029840 near HIPK1 showed stronger replication (P = 1.64 × 10⁻⁸, OR 1.55). The findings implicate oxidative stress and the MSRA-mediated apoptosis pathway in RA pathogenesis.

Traits studied:Rheumatoid arthritis

About HS6ST3

Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]

View all HS6ST3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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