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

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

Structure of epiandrosterone sulfate
Metabolite Accession: GCST90199752
Name: epiandrosterone sulfate
Hmdb Id: HMDB0062657
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

Associated Genomic Regions

Region: rs75406471

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.231
Position:
5257647
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
-9.701
Reference Allele:
G
-log10(P):
-49.563
MAF:
0.142
Beta (Num):
-0.145
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.087
SE (Den):
0.020
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.229
Position:
5258450
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
-9.559
Reference Allele:
G
-log10(P):
-48.185
MAF:
0.142
Beta (Num):
-0.142
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.087
SE (Den):
0.020
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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):
-0.231
Position:
5262965
SE (Ratio):
0.024
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):
0.088
SE (Den):
0.020
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Steroid Metabolism. 4[1], 5[2]

Denominator Metabolite Explanation:

Androgen and Steroid Metabolism. 6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the activity of steroidogenic enzymes. AKR1C4 is involved in interconverting various androgens, influencing the balance between these two sulfated steroids. 9[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The AKR1C4 missense variant likely alters its function, impacting steroid metabolism. This change in the 5alpha-androstan-3beta,17alpha-diol disulfate to epiandrosterone sulfate ratio is associated with variations in body weight, triglycerides, and liver enzymes, suggesting a link between AKR1C4-mediated steroid regulation and metabolic phenotype. 11[1], 12[2]

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