5alpha-androstan-3beta,17beta-diol disulfate to 5alpha-androstan-3beta,17alpha-diol disulfate

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 5alpha-androstan-3beta,17alpha-diol disulfate
Metabolite Accession: GCST90199852
Name: 5alpha-androstan-3beta,17alpha-diol disulfate
Hmdb Id: HMDB0094682
Super Pathway: NA
Sub Pathway: NA
Inchikey: JHFAETDERBWUOO

Associated Genomic Regions

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.230
Position:
5258450
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
9.526
Reference Allele:
G
-log10(P):
-47.864
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.142
SE (Den):
0.023
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):
0.231
Position:
5262965
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
9.577
Reference Allele:
A
-log10(P):
-48.359
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.143
SE (Den):
0.023
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs1889459

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.232
Position:
5314043
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
9.860
Reference Allele:
G
-log10(P):
-51.138
MAF:
0.157
Beta (Num):
0.086
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.146
SE (Den):
0.023
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 UCN3 TUBAL3 NET1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Estrogen Metabolism

Denominator Metabolite Explanation:

Androgen and Estrogen Metabolism

Ratio Explanation:

The ratio reflects the balance between 17-beta and 17-alpha stereoisomers of 5alpha-androstan-diol disulfate, with AKR1C4 activity influencing their interconversion and inactivation.3[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in AKR1C4, which regulates steroid and bile acid metabolism, is linked to variations in metabolic traits such as body weight and triglyceride levels.4[1], 5[2], 6[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