5alpha-androstan-3alpha,17beta-diol monosulfate (2) to androstenediol (3alpha, 17alpha) monosulfate (3)

Numerator Metabolite

Metabolite Accession: GCST90199983
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199856
Name: androstenediol (3alpha, 17alpha) monosulfate (3)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.583
Position:
48374950
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
24.922
Reference Allele:
C
-log10(P):
-313.985
MAF:
0.168
Beta (Num):
0.248
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.334
SE (Den):
0.018
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and steroid metabolism.2[1], 6[2]

Denominator Metabolite Explanation:

Androgen and steroid metabolism.7[1], 8[2]

Ratio Explanation:

The ratio reflects the relative activity of sulfation pathways for C19 steroids, potentially influenced by SULT2A1, which acts on both classes of androgens.9[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with altered bile acid and steroid metabolism, leading to an increased risk of gallstone formation (cholelithiasis).5[1], 11[2], 12[3], 13[4] This is likely due to altered detoxification and clearance of lithogenic bile acids.

Phenotype Driver:

Gene-centric:SULT2A1

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data