rs2357285

This variant is located in the HACD1 gene.

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GWAS Catalog Trait Associations (2)

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

aspartate aminotransferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.07

p 3.0e-50

N 354,541

Major Consortium StudyLarge GWAS

multi-ancestry

aspartate aminotransferase to alanine aminotransferase ratio

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.04

p 3.0e-18

N 354,455

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10

AssociationN=1,577Xueying Liang et al.(2009)· Human Mutation

A genomic convergence study of 506 Alzheimer disease cases and 558 controls identified genetic associations in chromosome 10 genes PTPLA, SORCS1, and CACNB2 with late-onset Alzheimer disease (LOAD). The most significant finding was rs17277986 in SORCS1, which showed allelic association p=0.00002 in females (3-locus haplotype p=0.0005). PTPLA showed allelic association p=0.0022 (rs10508533) and CACNB2 showed significant gene-gene interactions, with suggestive evidence that genetic variations in these genes may alter AD risk through multiple pathways including amyloid-β generation, calcium signaling, and tau phosphorylation.

Traits studied:Alzheimer diseaseLate-onset Alzheimer disease

PubMed DOI Metascience Observatory

About HACD1

The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]