androstenediol (3beta,17beta) monosulfate (2) to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

Structure of androstenediol (3beta,17beta) monosulfate (2)
Metabolite Accession: GCST90199871
Name: androstenediol (3beta,17beta) monosulfate (2)
Hmdb Id: HMDB0240429,HMDB0186954
Super Pathway: NA
Sub Pathway: NA
Inchikey: KMTOEENORMWLCF

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-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):
-0.250
Position:
48374950
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-9.695
Reference Allele:
C
-log10(P):
-49.507
MAF:
0.162
Beta (Num):
-0.087
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.163
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism.3[1]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis.4[1], 5[2]

Ratio Explanation:

This ratio reflects the activity of SULT2A1, an enzyme that sulfates precursors of both androstenediol and 5alpha-pregnan-diol, impacting steroid hormone balance.1[1], 6[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SULT2A1 alters the metabolism of steroid hormones and bile acids, which can change bile composition and increase the risk of cholesterol gallstone formation (cholelithiasis), a process influenced by sex hormones.6[1], 7[2], 8[3], 9[4], 10[5], 11[6], 12[7]

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