21-hydroxypregnenolone disulfate to andro steroid monosulfate c19h28o6s (1)*

Numerator Metabolite

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

Denominator Metabolite

Structure of andro steroid monosulfate c19h28o6s (1)*
Metabolite Accession: GCST90199860
Name: andro steroid monosulfate c19h28o6s (1)*
Hmdb Id: HMDB0002759
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

Associated Genomic Regions

Region: rs9461218

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.239
Position:
25818755
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-13.089
Reference Allele:
G
-log10(P):
-88.466
MAF:
0.236
Beta (Num):
-0.109
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.130
SE (Den):
0.019
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

Region: rs57440165

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.221
Position:
26843517
SE (Ratio):
0.027
Effect Allele:
C
Z-score (Ratio):
-8.133
Reference Allele:
A
-log10(P):
-35.407
MAF:
0.088
Beta (Num):
-0.072
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.149
SE (Den):
0.028
No CNV overlap
rQTL cluster:
110
Reaction Distance:
NA
Closest Genes:
ZNF322 ABT1 HIST1H2BJ HIST1H2AG HIST1H2BK

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis; corticosteroid biosynthesis.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Androgen metabolism; steroidogenesis.7[1], 9[2], 10[3]

Ratio Explanation:

This ratio likely reflects altered steroid hormone biosynthesis, potentially influenced by CYP4B1 genetic variants, affecting the balance between pregnenolone and androgen derivatives.7[1], 11[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in CYP4B1 may alter steroid metabolism, impacting the balance of steroid hormones. This dysregulation is linked to various autoimmune phenotypes like Sjögren's syndrome and lupus, and also affects hematological and metabolic traits. 11[1], 12[2], 13[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