pregnenetriol sulfate* to pregnenediol sulfate (c21h34o5s)*

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

Structure of pregnenediol sulfate (c21h34o5s)*
Metabolite Accession: GCST90199861
Name: pregnenediol sulfate (c21h34o5s)*
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Associated Genomic Regions

Region: rs2011425

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.167
Position:
234627608
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
-11.685
Reference Allele:
T
-log10(P):
-70.966
MAF:
0.080
Beta (Num):
-0.197
Novel Locus:
No
SE (Num):
0.024
Beta (Den):
-0.030
SE (Den):
0.024
No CNV overlap
rQTL cluster:
136
Reaction Distance:
NA
Closest Genes:
UGT1A10 UGT1A5 UGT1A8 UGT1A6 UGT1A4

Region: rs73076175

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.209
Position:
35989989
SE (Ratio):
0.011
Effect Allele:
G
Z-score (Ratio):
-18.812
Reference Allele:
A
-log10(P):
-180.107
MAF:
0.142
Beta (Num):
0.049
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.258
SE (Den):
0.019
No CNV overlap
rQTL cluster:
116
Reaction Distance:
NA
Closest Genes:
UGT3A1 UGT3A2 CAPSL LMBRD2 IL7R

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis; Steroid sulfation.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Steroidogenesis; Steroid sulfation.10[1], 11[2], 12[3]

Ratio Explanation:

This ratio reflects differential metabolism of steroid precursors, which is likely modulated by UGT enzyme activity competing with sulfation pathways for these substrates.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered UGT1A8 function impacts both steroid and bilirubin glucuronidation. The bilirubin link explains the hyperbilirubinemia phenotype.13[1], 14[2], 15[3] Changes in steroid metabolism may influence connective tissue integrity, potentially contributing to inguinal hernia, a phenotype associated with UGT1A variants.16[4], 17[5]

Phenotype Driver:

Gene-centric:UGT1A8

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