androstenediol (3beta,17beta) monosulfate (1) to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Structure of androstenediol (3beta,17beta) monosulfate (1)
Metabolite Accession: GCST90199872
Name: androstenediol (3beta,17beta) monosulfate (1)
Hmdb Id: HMDB0240429
Super Pathway: NA
Sub Pathway: NA
Inchikey: KMTOEENORMWLCF

Denominator Metabolite

Structure of pregnenediol sulfate (c21h34o5s)*
Metabolite Accession: GCST90199861
Name: pregnenediol sulfate (c21h34o5s)*
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Associated Genomic Regions

Region: rs10883783

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.109
Position:
104591152
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
-9.136
Reference Allele:
T
-log10(P):
-44.184
MAF:
0.290
Beta (Num):
-0.064
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.045
SE (Den):
0.014
No CNV overlap
rQTL cluster:
66
Reaction Distance:
NA
Closest Genes:
CYP17A1 WBP1L C10orf32 C10orf32-ASMT AS3MT

Region: rs12659258

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.247
Position:
35970215
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-16.087
Reference Allele:
G
-log10(P):
-132.396
MAF:
0.146
Beta (Num):
0.015
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.262
SE (Den):
0.018
No CNV overlap
rQTL cluster:
116
Reaction Distance:
NA
Closest Genes:
UGT3A1 CAPSL UGT3A2 IL7R LMBRD2

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-0.412
Position:
99075038
SE (Ratio):
0.030
Effect Allele:
C
Z-score (Ratio):
-13.799
Reference Allele:
T
-log10(P):
-98.063
MAF:
0.034
Beta (Num):
-0.382
Novel Locus:
No
SE (Num):
0.037
Beta (Den):
0.030
SE (Den):
0.036
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism.7[1], 8[2], 9[3], 10[4]

Denominator Metabolite Explanation:

Steroidogenesis, pregnenolone metabolism.11[1], 12[2], 13[3], 14[4], 15[5]

Ratio Explanation:

The ratio reflects the balance between sulfated androgen and pregnenolone pathway end-products, potentially influenced by UGT3A1's role in steroid conjugation and clearance.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The UGT3A1 missense variant likely impairs the clearance of sulfated steroids, including androstenediol monosulfate. This altered steroid profile, including the ratio to pregnenediol sulfate, is associated with variations in inflammatory markers (CRP, WBC), red blood cell indices (MCH, MCV), and metabolic parameters (uric acid, BMI, height).

Phenotype Driver:

Gene-centric:UGT3A1

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