21-hydroxypregnenolone disulfate to androstenediol (3beta,17beta) disulfate (2)

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 androstenediol (3beta,17beta) disulfate (2)
Metabolite Accession: GCST90199851
Name: androstenediol (3beta,17beta) disulfate (2)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

Associated Genomic Regions

Region: rs4507958

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.175
Position:
47383041
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
-13.010
Reference Allele:
A
-log10(P):
-87.425
MAF:
0.126
Beta (Num):
-0.182
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.008
SE (Den):
0.021
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.156
Position:
5258450
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
12.391
Reference Allele:
G
-log10(P):
-79.520
MAF:
0.150
Beta (Num):
0.029
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.127
SE (Den):
0.019
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.155
Position:
5262965
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
12.345
Reference Allele:
A
-log10(P):
-78.946
MAF:
0.150
Beta (Num):
0.029
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.126
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs7897822

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.157
Position:
5284557
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
12.471
Reference Allele:
G
-log10(P):
-80.524
MAF:
0.148
Beta (Num):
0.029
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.128
SE (Den):
0.019
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 UCN3 AKR1C3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis.5[1], 6[2]

Denominator Metabolite Explanation:

Steroidogenesis, Androgen metabolism.7[1], 8[2]

Ratio Explanation:

The ratio may reflect the balance between progestin and androgen pathways, modulated by AKR1C4's catalytic activity on steroid precursors.9[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered AKR1C4 activity impacts hepatic steroid and bile acid metabolism, leading to changes in liver function biomarkers (GGT, ALP) and related metabolic traits like body weight and triglycerides.10[1], 11[2], 12[3] The ratio is a likely biomarker of this altered enzymatic function.

Phenotype Driver:

Gene-centric:AKR1C4

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