5alpha-pregnan-3beta,20beta-diol monosulfate (1) to andro steroid monosulfate c19h28o6s (1)*

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 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: rs148982377

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):
-1.129
Position:
99075038
SE (Ratio):
0.054
Effect Allele:
C
Z-score (Ratio):
-21.084
Reference Allele:
T
-log10(P):
-225.543
MAF:
0.034
Beta (Num):
-0.300
Novel Locus:
No
SE (Num):
0.043
Beta (Den):
0.829
SE (Den):
0.041
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Progestin steroid biosynthesis.7[1], 8[2]

Denominator Metabolite Explanation:

Androgen steroid metabolism.7[1]

Ratio Explanation:

The ratio reflects the balance between C21 progestin and C19 androgen steroid metabolism. eQTLs like PTCD1 suggest a link to mitochondrial function, which is crucial for steroidogenesis, potentially influencing this metabolic balance.7[1], 9[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in PTCD1, which regulates mitochondrial function, are associated with the steroid ratio and phenotypes like inflammation (CRP, WBC) and metabolic changes (BMI, UA), suggesting mitochondrial health is a key link.1[1], 10[2], 2[3], 3[4], 4[5]

Phenotype Driver:

Gene-centric:PTCD1

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