pregnenetriol sulfate* to 5alpha-androstan-3alpha,17beta-diol monosulfate (2)

Numerator Metabolite

Structure of pregnenetriol sulfate*
Metabolite Accession: GCST90200241
Name: pregnenetriol sulfate*
Hmdb Id: HMDB0241920
Super Pathway: NA
Sub Pathway: NA
Inchikey: DENIQPHQUIGDJZ

Denominator Metabolite

Metabolite Accession: GCST90199983
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (2)
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):
-0.506
Position:
48374950
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-21.977
Reference Allele:
C
-log10(P):
-244.815
MAF:
0.161
Beta (Num):
-0.257
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.248
SE (Den):
0.017
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Steroid biosynthesis3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Androgen metabolism6[1], 7[2]

Ratio Explanation:

The ratio reflects the activity of SULT2A1, which sulfates both pregnenetriol and 5alpha-androstan-3alpha,17beta-diol, influencing the balance of steroid hormone precursors and metabolites.2[1], 8[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity alters steroid and bile acid sulfation, a mechanism linked to increased cholelithiasis risk.9[1], 10[2], 11[3] Genetic variants in SULT2A1 are associated with gallstone disease.9[4], 12[5]

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