pregnenetriol sulfate* to 5alpha-androstan-3alpha,17beta-diol monosulfate (1)

Numerator Metabolite

Structure of pregnenetriol sulfate*
Metabolite Accession: GCST90200241
Name: pregnenetriol sulfate*
Hmdb Id: HMDB0241920
Super Pathway: NA
Sub Pathway: NA
Inchikey: DENIQPHQUIGDJZ

Denominator Metabolite

Metabolite Accession: GCST90199858
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (1)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
1.372
Position:
99075038
SE (Ratio):
0.049
Effect Allele:
C
Z-score (Ratio):
28.122
Reference Allele:
T
-log10(P):
-398.984
MAF:
0.034
Beta (Num):
0.032
Novel Locus:
No
SE (Num):
0.035
Beta (Den):
-1.340
SE (Den):
0.049
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis

Denominator Metabolite Explanation:

Androgen metabolism

Ratio Explanation:

none

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants associated with ATP5J2 expression may alter mitochondrial energy production, influencing steroid hormone metabolism.4[1] This dysregulation of steroids, which are key regulators of metabolism and inflammation, likely contributes to observed associations with BMI, C-reactive protein, and white blood cell count.5[2], 6[3], 7[4], 8[5]

Phenotype Driver:

Gene-centric:ATP5J2

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