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

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90199855
Name: 5alpha-androstan-3beta,17beta-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.239
Position:
5258450
SE (Ratio):
0.025
Effect Allele:
T
Z-score (Ratio):
-9.590
Reference Allele:
G
-log10(P):
-48.478
MAF:
0.142
Beta (Num):
-0.142
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.097
SE (Den):
0.022
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):
-0.240
Position:
5262965
SE (Ratio):
0.025
Effect Allele:
C
Z-score (Ratio):
-9.632
Reference Allele:
A
-log10(P):
-48.887
MAF:
0.142
Beta (Num):
-0.143
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.098
SE (Den):
0.022
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs151227875

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.242
Position:
5297321
SE (Ratio):
0.024
Effect Allele:
G
Z-score (Ratio):
-9.894
Reference Allele:
C
-log10(P):
-51.472
MAF:
0.148
Beta (Num):
-0.149
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.092
SE (Den):
0.021
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 UCN3 TUBAL3 AKR1C3

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism

Denominator Metabolite Explanation:

Androgen and estrogen metabolism

Ratio Explanation:

The ratio reflects AKR1C4 enzymatic activity, where higher values suggest increased conversion of the monosulfate to the disulfate form of 5alpha-androstan-diol.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in AKR1C4 may alter its enzymatic activity, impacting steroid metabolism, which is associated with variations in body weight, and liver function markers.2[1], 4[2], 5[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