rs6151429

This is a 3 prime utr variant variant in the ARSA gene.

▶

GWAS Catalog Trait Associations (7)

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

X-11423--O-sulfo-L-tyrosine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.28
p 7.0e-52
N 14,296
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.23
p 2.0e-13
N 9,018
Large GWAS
multi-ancestry
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.28
p 1.0e-25
N 8,809
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.029
p 7.0e-18
N 7,765
Large GWAS
European

arylsulfatase A measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.47
p 6.0e-42
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

metabolite measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.29
p 5.0e-24
N 8,229
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.10
p 2.0e-12
N 4,960
Large GWAS
European

X-12749 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.025
p 5.0e-13
N 7,178
Large GWAS
European

urinary metabolite measurement

Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)
Allele C
OR 0.18
p 9.0e-13
N 1,221
Large GWAS

protein measurement

He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele C
OR —
β 0.003
p 8.0e-9
N 287
Small GWAS
multi-ancestry
▶

ClinVar annotation

Pathogenic★★★☆
20 submitters8 publications

ARYLSULFATASE A PSEUDODEFICIENCY; Metachromatic leukodystrophy (MLD); not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus
AssociationN=373Sergey V. Kozyrev et al.(2007)· Arthritis &amp; Rheumatism

This study identified 2,530 genes with alternative polyadenylation quantitative trait loci (apaQTL) in 373 European individuals from the GEUVADIS dataset, discovering ~160,000 genetic variants affecting 3' UTR isoform expression. Notably, rs10954213 in IRF5 was confirmed to affect APA regulation in systemic lupus erythematosus (SLE) patients. apaQTLs showed significant enrichment in GWAS hits, particularly for immune disorders (OR=5.41) and neurological disorders (OR=4.32), suggesting that alternative polyadenylation is an important intermediate molecular phenotype linking genetic variation to complex disease susceptibility.

Traits studied:Alternative polyadenylation (molecular trait)Autism spectrum disorderImmune-related disordersLung carcinomaMultiple sclerosisNeurological disordersParkinson's diseaseSchizophreniaSpina bifidaSquamous cell lung carcinomaSystemic lupus erythematosus
PubMedDOIMetascience Observatory

About ARSA

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

View all ARSA 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…