adrenate (22:4n6) to palmitoylcarnitine (c16)

Numerator Metabolite

Structure of adrenate (22:4n6)
Metabolite Accession: GCST90199709
Name: adrenate (22:4n6)
Hmdb Id: HMDB0002226
Super Pathway: NA
Sub Pathway: NA
Inchikey: TWSWSIQAPQLDBP

Denominator Metabolite

Structure of palmitoylcarnitine (c16)
Metabolite Accession: GCST90199666
Name: palmitoylcarnitine (c16)
Hmdb Id: HMDB0000222
Super Pathway: NA
Sub Pathway: NA
Inchikey: XOMRRQXKHMYMOC

Associated Genomic Regions

Region: rs388891

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):
-0.178
Position:
131700794
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-10.289
Reference Allele:
G
-log10(P):
-55.500
MAF:
0.294
Beta (Num):
-0.053
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.125
SE (Den):
0.017
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid metabolism.3[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, Carnitine shuttle.4[1], 5[2]

Ratio Explanation:

The ratio reflects carnitine-dependent fatty acid transport efficiency. Reduced SLC22A5 function decreases palmitoylcarnitine formation, while adrenate levels may change due to shifts in fatty acid pools.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Impaired SLC22A5 function leads to systemic carnitine deficiency, impacting fatty acid oxidation. This dysfunction is the likely cause of the observed hematological phenotypes, as carnitine is crucial for the energy metabolism of various cells, including hematopoietic ones.6[1], 7[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