pregnenetriol disulfate* to androstenediol (3alpha, 17alpha) monosulfate (3)

Numerator Metabolite

Metabolite Accession: GCST90200238
Name: pregnenetriol disulfate*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199856
Name: androstenediol (3alpha, 17alpha) monosulfate (3)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs113354025

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.250
Position:
101625549
SE (Ratio):
0.027
Effect Allele:
T
Z-score (Ratio):
-9.141
Reference Allele:
C
-log10(P):
-44.232
MAF:
0.059
Beta (Num):
-0.177
Novel Locus:
Yes ✔️
SE (Num):
0.030
Beta (Den):
0.073
SE (Den):
0.029
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
DNMBP ABCC2 CUTC COX15 ENTPD7

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
0.851
Position:
99075038
SE (Ratio):
0.035
Effect Allele:
C
Z-score (Ratio):
24.329
Reference Allele:
T
-log10(P):
-299.370
MAF:
0.035
Beta (Num):
0.012
Novel Locus:
No
SE (Num):
0.039
Beta (Den):
-0.840
SE (Den):
0.037
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 and estrogen metabolism

Ratio Explanation:

The ratio reflects altered steroid metabolism and transport, where a missense variant in the ABCC2 transporter could impair the cellular export of these sulfated steroids.1[1], 2[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A missense variant in ABCC2, a transporter of steroid sulfates, likely alters the cellular efflux of pregnenetriol disulfate and androstenediol monosulfate.2[1], 3[2], 4[3] This altered transport could contribute to the observed associations with BMI and liver enzyme levels (ALT, AST, GGT), as ABCC2 function is linked to liver detoxification and BMI.5[4], 6[5]

Phenotype Driver:

Gene-centric:ABCC2

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