androstenediol (3beta,17beta) disulfate (1) to 21-hydroxypregnenolone disulfate

Numerator Metabolite

Structure of androstenediol (3beta,17beta) disulfate (1)
Metabolite Accession: GCST90199842
Name: androstenediol (3beta,17beta) disulfate (1)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

Denominator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Associated Genomic Regions

Region: rs4507958

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.204
Position:
47383041
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
10.458
Reference Allele:
A
-log10(P):
-57.269
MAF:
0.126
Beta (Num):
0.021
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.182
SE (Den):
0.022
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-0.396
Position:
99075038
SE (Ratio):
0.035
Effect Allele:
C
Z-score (Ratio):
-11.223
Reference Allele:
T
-log10(P):
-65.633
MAF:
0.034
Beta (Num):
-0.316
Novel Locus:
No
SE (Num):
0.038
Beta (Den):
0.081
SE (Den):
0.040
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism7[1]

Denominator Metabolite Explanation:

Steroidogenesis, Corticosteroid biosynthesis8[1], 9[2], 10[3]

Ratio Explanation:

This ratio reflects the balance between androgen precursor (androstenediol) and corticosteroid precursor (21-hydroxypregnenolone) pathways7[1], 8[2], 11[3], potentially influenced by CYP450 enzymes.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CYP4B1 function may shift steroid hormone balance, influencing androgen- and inflammation-related phenotypes.12[1] This could plausibly connect to variations in body mass index, C-reactive protein, and white blood cell count, as steroid metabolism is linked to obesity and inflammatory responses.13[2], 14[3]

Phenotype Driver:

Gene-centric:CYP4B1

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