rs8177812

This variant is located in the ALAD gene.

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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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Case‐only gene–environment interaction between ALAD tagSNPs and occupational lead exposure in prostate cancer
AssociationN=603Neslund-Dudas C. et al.(2014)· The Prostate

Case-only study of 603 prostate cancer cases examining gene-environment interactions between ALAD tagSNPs and occupational lead exposure. Two ALAD intron 1 SNPs (rs818684 and rs818689) showed significant interactions with high lead exposure in black cases (IOR 2.73, P=0.002 and IOR 2.20, P=0.017 respectively). rs2761016 showed interaction with low lead exposure in black cases (IOR 2.08, P=0.019). The rs818684 variant allele was associated with higher Gleason grade in both black (OR 3.96) and white (OR 2.95) cases with high lead exposure.

Traits studied:Prostate cancerProstate cancer aggressiveness
PubMedDOIMetascience Observatory

About ALAD

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

View all ALAD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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