rs2736172

This is a coding sequence variant variant in the PRRC2A gene.

Research that mentions this SNP (2)

Genome‐wide association study of atypical psychosis
AssociationN=929Tetsufumi Kanazawa et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A GWAS of 47 Japanese atypical psychosis patients and 882 controls identified suggestive associations with CHN2/CPVL (rs245914, P=1.6×10⁻⁷), COL21A1 (rs12196860, P=2.45×10⁻⁷), and PYGL/TRIM9 (rs1959536, P=7.73×10⁻⁷), though none reached genome-wide significance. Gene-based analysis revealed significant genetic overlap with schizophrenia (P=0.014) but not bipolar disorder, suggesting atypical psychosis shares greater genetic architecture with schizophrenia.

Traits studied:Atypical psychosisBipolar disorderSchizophrenia
Genome‐wide association study of rheumatoid arthritis in Koreans: Population‐specific loci as well as overlap with European susceptibility loci
AssociationN=2,002Jan Freudenberg et al.(2011)· Arthritis & Rheumatism

This study applied Bayesian epistasis association mapping (BEAM/BEAM2) methods to genome-wide association studies data from the Welcome Trust Case Control Consortium (WTCCC) to identify high-order SNP interactions in rheumatoid arthritis. The analysis identified 319 high-order epistatic interactions across the genome, with many validated using data from the North American Rheumatoid Arthritis Consortium (NARAC). Key findings include inter-chromosomal interactions primarily on chromosomes 1, 3, 6, and 9, with enriched GO terms implicating synapse, calcium ion binding, and membrane pathways.

Traits studied:Rheumatoid arthritis

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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