5alpha-androstan-3alpha,17alpha-diol monosulfate to andro steroid monosulfate c19h28o6s (1)*

Numerator Metabolite

Structure of 5alpha-androstan-3alpha,17alpha-diol monosulfate
Metabolite Accession: GCST90199850
Name: 5alpha-androstan-3alpha,17alpha-diol monosulfate
Hmdb Id: HMDB0000412
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBMYJHIOYJEBSB

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):
-1.527
Position:
99075038
SE (Ratio):
0.069
Effect Allele:
C
Z-score (Ratio):
-22.182
Reference Allele:
T
-log10(P):
-249.357
MAF:
0.020
Beta (Num):
-0.698
Novel Locus:
No
SE (Num):
0.062
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:

Androgen and estrogen metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism.7[1], 8[2]

Ratio Explanation:

This ratio of two sulfated androgen metabolites may reflect alterations in mitochondrial-dependent steroidogenesis, potentially influenced by PTCD1's role in mitochondrial function.1[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

PTCD1 variants may alter mitochondrial function, impacting steroidogenesis.1[1], 9[2] This is reflected in the androgen metabolite ratio and is associated with systemic effects on anthropometric (BMI) and inflammatory/metabolic markers (UA, WBC, CRP) that are linked with androgen levels.10[3], 11[4], 12[5], 13[6]

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