5alpha-pregnan-3beta,20beta-diol monosulfate (1) to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Structure of 5alpha-pregnan-3beta,20beta-diol monosulfate (1)
Metabolite Accession: GCST90199853
Name: 5alpha-pregnan-3beta,20beta-diol monosulfate (1)
Hmdb Id: HMDB0240580
Super Pathway: NA
Sub Pathway: NA
Inchikey: NOGKXXMAHGCQBS

Denominator Metabolite

Structure of pregnenediol sulfate (c21h34o5s)*
Metabolite Accession: GCST90199861
Name: pregnenediol sulfate (c21h34o5s)*
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Associated Genomic Regions

Region: rs118168183

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:
7
Beta (Ratio):
-0.406
Position:
99291144
SE (Ratio):
0.041
Effect Allele:
A
Z-score (Ratio):
-9.795
Reference Allele:
G
-log10(P):
-50.492
MAF:
0.025
Beta (Num):
-0.328
Novel Locus:
No
SE (Num):
0.050
Beta (Den):
0.078
SE (Den):
0.042
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
CYP3A7 CYP3A5 ZSCAN25 CYP3A4 GS1-259H13.10

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone biosynthesis

Denominator Metabolite Explanation:

Steroid hormone biosynthesis

Ratio Explanation:

The ratio likely reflects CYP3A4 activity, which hydroxylates various steroid precursors, influencing the balance between different pregnane-based steroid metabolites in circulation.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Variation in CYP3A4 alters steroid metabolism, impacting the ratio. This change in steroid balance can influence inflammatory states (CRP), growth processes (Height), and renal/metabolic functions (Uric acid), as CYP3A4 activity is linked to all three phenotypes.3[1], 4[2], 5[3]

Phenotype Driver:

Gene-centric:CYP3A4

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