rs2844470

This is a downstream gene variant variant in the PRRC2A gene.

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GWAS Catalog Trait Associations (2)

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

celiac disease

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.68

p 5.0e-20

N 394,626

Large GWAS

European

body height

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.02

p 2.0e-15

N 394,642

Large GWAS

European

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Research that mentions this SNP (1)

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Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population

AssociationN=544Juan Zhang et al.(2021)· Journal of Neurology

This case-control study of 207 NMOSD patients (98 AQP4+ and 109 AQP4-), 141 MS patients, and 196 healthy controls identified common variants in PRRC2A gene associated with disease susceptibility. PRRC2A variants rs2736171, rs2736157, and rs2844470 were associated with AQP4+ NMOSD (p=0.005, p=0.004, and p<0.05 respectively), while rs2242659 was associated with MS (p=0.0038). The protective haplotype TTA-GAG-TAG showed strong protective effects for both AQP4+ and AQP4- NMOSD (OR 0.067 and 0.283 respectively), and three cis-eQTL SNPs (rs2736157, rs2736171, rs2242659) were found to modulate gene expression in disease-related brain regions (p values from 2.25×10⁻⁵ to 3.38×10⁻²⁷).

Traits studied:Multiple sclerosis (MS)Neuromyelitis optica spectrum disorder (NMOSD)

PubMed DOI Metascience Observatory

About PRRC2A

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]