21-hydroxypregnenolone disulfate to androsterone glucuronide

Numerator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Denominator Metabolite

Structure of androsterone glucuronide
Metabolite Accession: GCST90200688
Name: androsterone glucuronide
Hmdb Id: HMDB0002829
Super Pathway: NA
Sub Pathway: NA
Inchikey: VFUIRAVTUVCQTF

Associated Genomic Regions

Region: rs4149056

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Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
0.256
Position:
21331549
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
12.470
Reference Allele:
T
-log10(P):
-80.504
MAF:
0.156
Beta (Num):
0.214
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.041
SE (Den):
0.018
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):
-0.329
Position:
48374950
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-16.118
Reference Allele:
C
-log10(P):
-132.908
MAF:
0.161
Beta (Num):
-0.159
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.170
SE (Den):
0.018
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

Region: rs1165195

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.193
Position:
25815080
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
12.773
Reference Allele:
G
-log10(P):
-84.359
MAF:
0.444
Beta (Num):
0.162
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.031
SE (Den):
0.013
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis9[1], 10[2]

Denominator Metabolite Explanation:

Androgen and progestogen metabolism11[1], 12[2], 13[3], 14[4]

Ratio Explanation:

The ratio reflects the balance between steroid sulfation by SULT2A1 (numerator) and androgen breakdown through glucuronidation (denominator), indicating relative activity of these key steroid clearance pathways.15[1], 11[2], 8[3], 16[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with cholelithiasis.17[1], 18[2], 19[3] SULT2A1 is a key enzyme in bile acid and steroid sulfation; altered activity can disrupt cholesterol homeostasis, a known factor in gallstone formation.17[4], 8[5], 18[6]

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