rs1048990

This is a regulatory region variant variant in the PSMA6 gene.

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GWAS Catalog Trait Associations (1)

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

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)

Allele G

OR 1.04

p 1.0e-8

N 360,838

Large GWAS

European

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ClinVar annotation

Risk Factor

2 submitters2 publications

Myocardial infarction, susceptibility to; PSMA6-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic variations in the PSMA3, PSMA6 and PSMC6 genes are associated with type 1 diabetes in Latvians and with expression level of number of UPS-related and T1DM-susceptible genes in HapMap individuals

AssociationN=466Tatjana Sjakste et al.(2016)· Molecular Genetics and Genomics

This case-control study of 161 Latvian type 1 diabetes (T1DM) patients and 305 healthy controls found significant associations between SNP variants in proteasome genes (PSMA3, PSMA6, PSMC6) and T1DM susceptibility. Key findings: rs1048990 (PSMA6) showed OR=2.042 (p=0.0003), rs2295826 (PSMC6) showed OR=1.598 (p=0.0012), and rs2348071 (PSMA3) showed OR=2.096 (p<0.0001). Multi-locus haplotypes demonstrated stronger associations, notably Hap8 with OR=9.201 (p<0.0001). Gene expression analysis identified correlations between SNP genotypes and mRNA levels of multiple ubiquitin-proteasome system and T1DM-candidate genes.

Traits studied:Type 1 diabetes mellitus

PubMed DOI Metascience Observatory

About PSMA6

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]