n-acetylleucine to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Structure of n-acetylleucine
Metabolite Accession: GCST90200288
Name: n-acetylleucine
Hmdb Id: HMDB0011756
Super Pathway: NA
Sub Pathway: NA
Inchikey: WXNXCEHXYPACJF

Denominator Metabolite

Structure of androstenediol (3beta,17beta) disulfate (2)
Metabolite Accession: GCST90199851
Name: androstenediol (3beta,17beta) disulfate (2)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

Associated Genomic Regions

Region: rs1165195

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.182
Position:
25815080
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-8.854
Reference Allele:
G
-log10(P):
-41.612
MAF:
0.444
Beta (Num):
-0.091
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.091
SE (Den):
0.014
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Leucine metabolism, N-acyl-alpha amino acid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism, Steroid sulfation.7[1], 8[2]

Ratio Explanation:

The variant in SLC17A4, a transporter of diverse organic anions, could alter the disposition of both N-acetylleucine and the sulfated steroid, reflecting altered transport.3[1], 9[2], 10[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The SLC17A4 variant likely alters urate transport, directly impacting serum uric acid and creatinine levels.11[1], 3[2], 12[3] These changes in kidney function markers can subsequently influence hematological parameters like hemoglobin and hematocrit, explaining the associated phenotypes.13[4], 14[5]

Phenotype Driver:

Gene-centric:SLC17A4

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