cis-3,4-methyleneheptanoylcarnitine to carnitine C18:2

Numerator Metabolite

Metabolite Accession: GCST90200266
Name: cis-3,4-methyleneheptanoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of linoleoylcarnitine (c18:2)*
Metabolite Accession: GCST90199916
Name: linoleoylcarnitine (c18:2)*
Hmdb Id: HMDB0006469
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJLXQSQYKZWZCB

Associated Genomic Regions

Region: rs2073644

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:
5
Beta (Ratio):
-0.188
Position:
131723289
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
-10.549
Reference Allele:
A
-log10(P):
-58.231
MAF:
0.448
Beta (Num):
-0.069
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.118
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 C5orf56 SLC22A4 P4HA2 IRF1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

The ratio compares an unusual acylcarnitine to a long-chain acylcarnitine, potentially reflecting altered carnitine homeostasis or substrate preference due to SLC22A5 transporter function.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the SLC22A5 transporter likely alter carnitine and acylcarnitine homeostasis.1[1], 3[2] This dysregulation of energy metabolism and inflammatory pathways may contribute to the pathogenesis of associated inflammatory skin diseases like psoriasis and seborrhoeic dermatitis.4[3], 5[4], 6[5], 7[6], 8[7]

Phenotype Driver:

Gene-centric:SLC22A5

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