5alpha-androstan-3beta,17beta-diol disulfate to pregnenediol disulfate (c21h34o8s2)*

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

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
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):
0.143
Position:
5258450
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
7.574
Reference Allele:
G
-log10(P):
-30.952
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.055
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):
0.143
Position:
5262965
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
7.594
Reference Allele:
A
-log10(P):
-31.106
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.055
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs17134724

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):
0.144
Position:
5318512
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
7.848
Reference Allele:
G
-log10(P):
-33.100
MAF:
0.157
Beta (Num):
0.086
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.058
SE (Den):
0.019
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 UCN3 TUBAL3 NET1

LLM Analysis

Numerator Metabolite Explanation:

Numerator Pathway(s) (max 10 words): Androgen and Estrogen Metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Denominator Pathway(s) (max 10 words): Steroidogenesis, Progesterone Metabolism.6[1], 7[2]

Ratio Explanation:

Ratio Interpretation (max 25 words): This ratio may reflect the activity of AKR1C4, which catalyzes the reduction of C19 steroids (androgens) and C21 steroids (progestogens), influencing androgen inactivation.8[1], 9[2], 10[3]

Ratio Evidence:

Ratio Evidence Level: metabolites related through biology

Gene Ratio Phenotype Relationship:

Ratio-Phenotype Link (max 50 words): Reduced AKR1C4 activity can alter steroid and bile acid metabolism.1[1] This impacts liver function markers like GGT, ALP, and bilirubin, and influences lipid levels (cholesterol, triglycerides), potentially affecting body weight and height.11[2], 12[3], 13[4], 14[5]

Phenotype Driver:

Primary Driver Of Phenotype Link: 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