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

Numerator Metabolite

Structure of androstenediol (3beta,17beta) monosulfate (1)
Metabolite Accession: GCST90199872
Name: androstenediol (3beta,17beta) monosulfate (1)
Hmdb Id: HMDB0240429
Super Pathway: NA
Sub Pathway: NA
Inchikey: KMTOEENORMWLCF

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: rs10890426

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.207
Position:
47385304
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
10.493
Reference Allele:
G
-log10(P):
-57.642
MAF:
0.125
Beta (Num):
0.014
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.193
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):
-0.462
Position:
99075038
SE (Ratio):
0.035
Effect Allele:
C
Z-score (Ratio):
-13.105
Reference Allele:
T
-log10(P):
-88.675
MAF:
0.034
Beta (Num):
-0.382
Novel Locus:
No
SE (Num):
0.037
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:

Steroid hormone biosynthesis.6[1], 7[2], 8[3], 9[4]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis.10[1], 11[2], 12[3], 13[4], 9[5]

Ratio Explanation:

The ratio reflects the balance in steroid hormone production, potentially influenced by CYP4B1's role in steroid metabolism.1[1], 2[2], 6[3], 7[4], 11[5], 8[6]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Variation in the CYP4B1 gene may alter steroid metabolism, affecting the androstenediol to 21-hydroxypregnenolone ratio, which is associated with systemic effects on inflammation (C-reactive protein, white blood cell count) and metabolism (uric acid, BMI).14[1], 15[2], 16[3], 17[4], 18[5], 19[6]

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