androstenediol (3beta,17beta) monosulfate (2) to pregnenolone sulfate

Numerator Metabolite

Structure of androstenediol (3beta,17beta) monosulfate (2)
Metabolite Accession: GCST90199871
Name: androstenediol (3beta,17beta) monosulfate (2)
Hmdb Id: HMDB0240429,HMDB0186954
Super Pathway: NA
Sub Pathway: NA
Inchikey: KMTOEENORMWLCF

Denominator Metabolite

Structure of pregnenolone sulfate
Metabolite Accession: GCST90199873
Name: pregnenolone sulfate
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Associated Genomic Regions

Region: rs4149056

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:
12
Beta (Ratio):
-0.320
Position:
21331549
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-13.755
Reference Allele:
T
-log10(P):
-97.446
MAF:
0.155
Beta (Num):
-0.113
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.207
SE (Den):
0.020
No CNV overlap
rQTL cluster:
52
Reaction Distance:
NA
Closest Genes:
SLCO1B1 RP11-125O5.2 SLCO1B7 SLCO1A2 LST3

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Androgen and Estrogen Metabolism.9[1], 10[2], 11[3], 12[4], 13[5]

Denominator Metabolite Explanation:

Steroidogenesis, Neurosteroid metabolism.14[1], 15[2], 16[3], 17[4], 18[5]

Ratio Explanation:

The ratio reflects the relative hepatic uptake of these two sulfated steroids via the OATP1B1 transporter, with alterations potentially indicating modified transporter function.19[1], 20[2], 21[3], 22[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLCO1B1 function can affect the transport of steroid hormones and bilirubin.1[1], 19[2], 23[3], 20[4] This dysregulation may disrupt hormonal balance and contribute to the observed cardiac phenotypes and changes in blood parameters like total bilirubin and protein levels.1[5], 24[6], 23[7], 25[8], 26[9], 27[10], 28[11]

Phenotype Driver:

Gene-centric:SLCO1B1

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