rs17824933

This is a regulatory region variant variant in the CD6 gene.

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GWAS Catalog Trait Associations (2)

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

level of phosphatidylcholine

Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)

Allele G

OR 0.38

p 4.0e-9

N 650

Small GWAS

European

multiple sclerosis

De Jager PL et al. “Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.” Nature Genetics 41(7):776-782 (2009)

Allele G

OR 1.18

p 4.0e-9

N 9,844

Meta-analysis

European

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Research that mentions this SNP (1)

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Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci

Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis

PubMed DOI Metascience Observatory

About CD6

This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]