dihomo-linoleate (20:2n6) to acetylcarnitine (c2)

Numerator Metabolite

Structure of dihomo-linoleate (20:2n6)
Metabolite Accession: GCST90200320
Name: dihomo-linoleate (20:2n6)
Hmdb Id: HMDB0005060
Super Pathway: NA
Sub Pathway: NA
Inchikey: XSXIVVZCUAHUJO

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: rs272849

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):
-0.156
Position:
131690241
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-11.040
Reference Allele:
G
-log10(P):
-63.573
MAF:
0.373
Beta (Num):
-0.044
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.112
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Linoleic acid metabolism, Biosynthesis of unsaturated fatty acids.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Carnitine shuttle.3[1], 6[2]

Ratio Explanation:

The ratio reflects the balance between a fatty acid and its carnitine-dependent transport for oxidation, potentially impaired by SLC22A5 dysfunction.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC22A5 function may impair carnitine-dependent fatty acid transport, impacting cellular energy and membrane composition in hematopoietic cells, leading to changes in blood cell counts.7[1] The gene's role as a transporter for various organic cations could also influence uric acid levels.8[2]

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