etiocholanolone glucuronide to 5alpha-pregnan-3beta,20beta-diol monosulfate (1)

Numerator Metabolite

Structure of etiocholanolone glucuronide
Metabolite Accession: GCST90199964
Name: etiocholanolone glucuronide
Hmdb Id: HMDB0004484
Super Pathway: NA
Sub Pathway: NA
Inchikey: VFUIRAVTUVCQTF

Denominator Metabolite

Structure of 5alpha-pregnan-3beta,20beta-diol monosulfate (1)
Metabolite Accession: GCST90199853
Name: 5alpha-pregnan-3beta,20beta-diol monosulfate (1)
Hmdb Id: HMDB0240580
Super Pathway: NA
Sub Pathway: NA
Inchikey: NOGKXXMAHGCQBS

Associated Genomic Regions

Region: rs62142080

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):
-0.217
Position:
32182528
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-11.345
Reference Allele:
T
-log10(P):
-67.017
MAF:
0.391
Beta (Num):
-0.112
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.105
SE (Den):
0.016
No CNV overlap
rQTL cluster:
151
Reaction Distance:
NA
Closest Genes:
MEMO1 DPY30 SPAST SLC30A6 NLRC4

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Steroid Metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Progesterone and Steroid Metabolism.5[1], 6[2]

Ratio Explanation:

The ratio reflects the balance between androgen and progesterone metabolite clearance. However, neither SPAST nor DPY30 are directly implicated in their metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Mutations in SPAST are linked to hereditary spastic paraplegia, which causes muscle spasticity and can result in limb pain.1[1], 2[2], 7[3], 8[4] While SPAST is not a steroid-metabolizing enzyme, altered microtubule function due to SPAST mutations could systemically impact cellular processes, including steroid transport or signaling, though the direct link is not established.

Phenotype Driver:

Gene-centric:SPAST

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