pregnenetriol sulfate* to bilirubin (z,z)

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 bilirubin (z,z)
Metabolite Accession: GCST90200704
Name: bilirubin (z,z)
Hmdb Id: HMDB0000054
Super Pathway: NA
Sub Pathway: NA
Inchikey: BPYKTIZUTYGOLE

Associated Genomic Regions

Region: rs4233633

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:
2
Beta (Ratio):
-0.274
Position:
234619937
SE (Ratio):
0.029
Effect Allele:
C
Z-score (Ratio):
-9.443
Reference Allele:
G
-log10(P):
-47.072
MAF:
0.125
Beta (Num):
-0.137
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.137
SE (Den):
0.022
No CNV overlap
rQTL cluster:
136
Reaction Distance:
NA
Closest Genes:
UGT1A10 UGT1A8 UGT1A6 UGT1A7 UGT1A9

LLM Analysis

Numerator Metabolite Explanation:

Steroid biosynthesis and metabolism.4[1]

Denominator Metabolite Explanation:

Heme catabolism and bilirubin metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

The ratio reflects UGT1A-mediated clearance. Reduced UGT1A function increases bilirubin (denominator), lowering the ratio, indicating impaired detoxification and elimination of bilirubin.1[1], 8[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced UGT1A activity impairs bilirubin conjugation, increasing serum bilirubin.9[1], 10[2] This promotes the formation of bilirubin-rich gallstones (cholelithiasis) and subsequent gallbladder inflammation (cholecystitis).8[3], 11[4], 12[5] The ratio is a biomarker for this genetically-driven disease risk.

Phenotype Driver:

Gene-centric:UGT1A1

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