5alpha-androstan-3beta,17beta-diol disulfate to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Metabolite Accession: GCST90199835
Name: 5alpha-androstan-3beta,17beta-diol disulfate
Hmdb Id: HMDB00493
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.215
Position:
5258450
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
12.132
Reference Allele:
G
-log10(P):
-76.317
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
No
SE (Num):
0.019
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):
0.215
Position:
5262965
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
12.116
Reference Allele:
A
-log10(P):
-76.120
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
No
SE (Num):
0.019
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: rs17134724

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.212
Position:
5318512
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
12.261
Reference Allele:
G
-log10(P):
-77.906
MAF:
0.157
Beta (Num):
0.086
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.126
SE (Den):
0.019
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 UCN3 TUBAL3 NET1

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-0.687
Position:
99075038
SE (Ratio):
0.034
Effect Allele:
C
Z-score (Ratio):
-20.076
Reference Allele:
T
-log10(P):
-204.760
MAF:
0.033
Beta (Num):
-0.672
Novel Locus:
No
SE (Num):
0.036
Beta (Den):
0.015
SE (Den):
0.038
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Androgen metabolism, steroid sulfation. 4[1]

Denominator Metabolite Explanation:

Androgen metabolism, steroid sulfation. 5[1], 6[2], 7[3]

Ratio Explanation:

This ratio reflects the activity of androgen metabolism, particularly the conversion of androstenediol to its 5-alpha reduced form, with AKR1C4 modulating this pathway. 8[1], 4[2], 9[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in AKR1C4 alters its enzymatic activity in the liver, affecting the androgen ratio and bile acid homeostasis. 2[1], 10[2]This dysregulation is linked to changes in metabolic (ALP, GGT, BMI, TC, TG) and inflammatory (CRP, WBC) phenotypes. 11[3]

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