rs17178006

This is a intron variant variant in the MSRB3 gene.

▶

GWAS Catalog Trait Associations (11)

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

granule cell layer dentate gyrus volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele G
OR 8.84
p 5.0e-21
N 21,297
Large GWAS
European

hippocampal CA4 volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele G
OR 7.33
p 3.0e-19
N 21,297
Large GWAS
European

hippocampal CA3 volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele G
OR 7.76
p 9.0e-19
N 21,297
Large GWAS
European

presubiculum volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele G
OR 5.61
p 2.0e-15
N 21,297
Large GWAS
European

hippocampal fissure volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele G
OR 5.65
p 2.0e-13
N 21,297
Large GWAS
European

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.02
p 2.0e-11
N 450,243
Major Consortium StudyLarge GWAS
European

hippocampal volume

Bis JC et al. “Common variants at 12q14 and 12q24 are associated with hippocampal volume.” Nature Genetics 44(5):545-51 (2012)
Allele G
OR 123.80
p 5.0e-11
N 9,232
Large GWAS
European

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.02
p 6.0e-11
N 373,397
Large GWAS
European

amygdala volume

Ji Y et al. “Cross-ancestry and sex-stratified genome-wide association analyses of amygdala and subnucleus volumes.” Nature Genetics 57(4):839-850 (2025)
Allele G
OR 0.08
p 2.0e-18
N 35,474
Large GWAS
European
Mufford MS et al. “The Genetic Architecture of Amygdala Nuclei.” Biological Psychiatry 95(1):72-84 (2024)
Allele G
OR 31.62
p 2.0e-17
N 31,690
Large GWAS
European

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.14
p 2.0e-21
N 21,282
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Multiple loci influencing hippocampal degeneration identified by genome scan
AssociationN=2,592Scott A. Melville et al.(2012)· Annals of Neurology

A two-stage genome-wide association study identified loci influencing hippocampal volume (HV), total cerebral volume (TCV), and white matter hyperintensities (WMH) in Alzheimer disease-related endophenotypes. Novel genome-wide significant associations (p<5.0×10⁻⁸) were found for HV with SNPs in APOE (p=5.23×10⁻³¹), F5/SELP (p=5.53×10⁻⁹), LHFP, and GCFC2 gene regions in Caucasian discovery cohorts, with replication support in African Americans. Significant associations with different SNPs in the same gene were observed for PICALM (p<1×10⁻⁵ in Caucasians) with HV, SYNPR with TCV, and TTC27 with WMH.

Traits studied:Alzheimer diseaseHippocampal volumeTotal cerebral volumeWhite matter hyperintensities
PubMedDOIMetascience Observatory

About MSRB3

The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

View all MSRB3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…