5alpha-pregnan-3beta,20alpha-diol disulfate to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Structure of 5alpha-pregnan-3beta,20alpha-diol disulfate
Metabolite Accession: GCST90199838
Name: 5alpha-pregnan-3beta,20alpha-diol disulfate
Hmdb Id: HMDB0094650
Super Pathway: NA
Sub Pathway: NA
Inchikey: LSQGWMYMIHQKSA

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: rs7893850

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.231
Position:
5251482
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
12.260
Reference Allele:
A
-log10(P):
-77.895
MAF:
0.149
Beta (Num):
0.102
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.129
SE (Den):
0.019
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):
0.019
Effect Allele:
T
Z-score (Ratio):
12.168
Reference Allele:
G
-log10(P):
-76.760
MAF:
0.150
Beta (Num):
0.103
Novel Locus:
No
SE (Num):
0.022
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):
0.229
Position:
5262965
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
12.128
Reference Allele:
A
-log10(P):
-76.270
MAF:
0.150
Beta (Num):
0.102
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.126
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Steroid metabolism, specifically pregnane metabolism.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Steroid metabolism, specifically androgen and estrogen metabolism.9[1], 10[2], 11[3], 12[4]

Ratio Explanation:

The ratio reflects the balance between pregnane and androstenediol metabolism, where AKR1C4 catalyzes the reduction of steroid hormones, potentially influencing the levels of both metabolites.3[1], 13[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

AKR1C4's role in steroid and bile acid metabolism links it to lipid levels (triglycerides, total cholesterol), while its influence on steroid hormones may affect growth (height).14[1], 15[2], 16[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