rs2260051

This variant is located in the PRRC2A gene.

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GWAS Catalog Trait Associations (5)

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

body height

Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele A
OR 0.01
p 2.0e-17
N 453,169
Large GWAS
European

fat pad mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 3.0e-16
N 337,196
Large GWAS
European

waist circumference

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 0.01
p 1.0e-15
N 394,642
Large GWAS
European
Lind L et al. “Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank.” Metabolic Syndrome and Related Disorders 18(3):121-127 (2020)
Allele T
OR 0.23
p 2.0e-13
N 291,107
Large GWAS
European

visceral adipose tissue quantity

Karlsson T et al. “Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.” Nature Medicine 25(9):1390-1395 (2019)
Allele A
OR 0.02
p 8.0e-15
N 325,153
Large GWAS
European

grip strength measurement

Tikkanen E et al. “Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.” Scientific Reports 8(1):6451 (2018)
Allele A
OR 0.00
p 7.0e-12
N 223,215
Major Consortium StudyLarge 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)
PubMedDOIMetascience 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]

View all PRRC2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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