androstenediol (3alpha, 17alpha) monosulfate (3) to epiandrosterone sulfate

Numerator Metabolite

Metabolite Accession: GCST90199856
Name: androstenediol (3alpha, 17alpha) monosulfate (3)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs77697233

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.129
Position:
5246125
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
-8.422
Reference Allele:
C
-log10(P):
-37.836
MAF:
0.149
Beta (Num):
-0.041
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
0.088
SE (Den):
0.020
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 AKR1C2

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.126
Position:
5258450
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
-8.249
Reference Allele:
G
-log10(P):
-36.370
MAF:
0.150
Beta (Num):
-0.039
Novel Locus:
Yes ✔️
SE (Num):
0.019
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

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.127
Position:
5262965
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-8.298
Reference Allele:
A
-log10(P):
-36.780
MAF:
0.150
Beta (Num):
-0.039
Novel Locus:
Yes ✔️
SE (Num):
0.019
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 estrogen metabolism

Denominator Metabolite Explanation:

Androgen and estrogen metabolism

Ratio Explanation:

The ratio reflects the balance between two sulfated androgen metabolites, potentially influenced by AKR1C4's role in steroid metabolism.1[1], 4[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

AKR1C4 and SULT2A1 variants influence steroid and bile acid metabolism. Altered levels of these sulfated steroids are associated with cholelithiasis, likely through effects on cholesterol solubility and bile composition.5[1], 6[2], 7[3], 8[4]

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