dihomo-linolenate (20:3n3 or n6) to acetylcarnitine (c2)

Numerator Metabolite

Structure of dihomo-linolenate (20:3n3 or n6)
Metabolite Accession: GCST90199820
Name: dihomo-linolenate (20:3n3 or n6)
Hmdb Id: HMDB0002925
Super Pathway: NA
Sub Pathway: NA
Inchikey: AHANXAKGNAKFSK

Denominator Metabolite

Structure of acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Associated Genomic Regions

Region: rs6897575

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):
-0.154
Position:
131604535
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-9.816
Reference Allele:
T
-log10(P):
-50.701
MAF:
0.436
Beta (Num):
-0.042
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.111
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
PDLIM4 P4HA2 SLC22A4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid biosynthesis and elongation.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

The ratio may reflect altered carnitine homeostasis due to SLC22A5 transporter function, impacting both acetylcarnitine levels and long-chain fatty acid metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in the SLC22A4/A5 locus affect transporter function. Altered SLC22A4-mediated urate transport is a known risk factor for gout, while SLC22A5 dysfunction impacts carnitine metabolism, potentially influencing inflammatory cell counts like neutrophils by altering their energy homeostasis.12[1], 13[2], 14[3]

Phenotype Driver:

Gene-centric:SLC22A4

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