5alpha-androstan-3alpha,17alpha-diol monosulfate to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

Structure of 5alpha-androstan-3alpha,17alpha-diol monosulfate
Metabolite Accession: GCST90199850
Name: 5alpha-androstan-3alpha,17alpha-diol monosulfate
Hmdb Id: HMDB0000412
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBMYJHIOYJEBSB

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs75406471

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.338
Position:
5257647
SE (Ratio):
0.029
Effect Allele:
A
Z-score (Ratio):
-11.558
Reference Allele:
G
-log10(P):
-69.477
MAF:
0.133
Beta (Num):
-0.228
Novel Locus:
No
SE (Num):
0.026
Beta (Den):
0.110
SE (Den):
0.022
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):
-0.336
Position:
5258450
SE (Ratio):
0.029
Effect Allele:
T
Z-score (Ratio):
-11.430
Reference Allele:
G
-log10(P):
-67.996
MAF:
0.133
Beta (Num):
-0.226
Novel Locus:
No
SE (Num):
0.026
Beta (Den):
0.109
SE (Den):
0.022
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):
-0.337
Position:
5262965
SE (Ratio):
0.029
Effect Allele:
C
Z-score (Ratio):
-11.478
Reference Allele:
A
-log10(P):
-68.542
MAF:
0.133
Beta (Num):
-0.228
Novel Locus:
No
SE (Num):
0.026
Beta (Den):
0.109
SE (Den):
0.022
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Progestin Metabolism.8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Progestin and Steroid Metabolism.8[1], 11[2], 12[3]

Ratio Explanation:

The ratio reflects the relative activity of AKR1C4 in metabolizing androgens and progestins, with genetic variations in AKR1C4 influencing this balance.8[1], 13[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

AKR1C4's role in steroid and bile acid metabolism links it to liver function (ALP, GGT, Total Bilirubin) and lipid metabolism (Total cholesterol, Triglycerides).14[1], 15[2], 16[3], 17[4] Its influence on overall metabolic state likely connects it to phenotypes like Height, Body Weight, Hematocrit, and Hemoglobin.14[5]

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