androstenediol (3beta,17beta) monosulfate (2) to pregnanediol-3-glucuronide

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

Structure of pregnanediol-3-glucuronide
Metabolite Accession: GCST90199917
Name: pregnanediol-3-glucuronide
Hmdb Id: HMDB0010318
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZFFFJLDTCLJDHL

Associated Genomic Regions

Region: rs4149056

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Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
-0.366
Position:
21331549
SE (Ratio):
0.026
Effect Allele:
C
Z-score (Ratio):
-14.130
Reference Allele:
T
-log10(P):
-102.711
MAF:
0.155
Beta (Num):
-0.113
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.253
SE (Den):
0.021
No CNV overlap
rQTL cluster:
52
Reaction Distance:
NA
Closest Genes:
SLCO1B1 RP11-125O5.2 SLCO1B7 SLCO1A2 LST3

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.199
Position:
48374950
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-7.702
Reference Allele:
C
-log10(P):
-31.946
MAF:
0.162
Beta (Num):
-0.087
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.112
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.9[1]

Denominator Metabolite Explanation:

Steroid glucuronidation.10[1], 11[2], 12[3], 13[4]

Ratio Explanation:

The ratio reflects the balance between SULT2A1-mediated sulfation of androgens and the glucuronidation and clearance of progesterone metabolites.6[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered steroid metabolism, influenced by SULT2A1 and SLCO1B1 variants, can affect bile acid composition and transport.14[1], 15[2], 16[3] This dysregulation is a known risk factor for cholelithiasis, a consistently associated phenotype.17[4], 15[5], 18[6]

Phenotype Driver:

Gene-centric:SLCO1B1

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