myristoylcarnitine (c14) to margarate (17:0)

Numerator Metabolite

Structure of myristoylcarnitine (c14)
Metabolite Accession: GCST90199730
Name: myristoylcarnitine (c14)
Hmdb Id: HMDB000506
Super Pathway: NA
Sub Pathway: NA
Inchikey: PSHXNVGSVNEJBD

Denominator Metabolite

Structure of margarate (17:0)
Metabolite Accession: GCST90200459
Name: margarate (17:0)
Hmdb Id: HMDB0002259
Super Pathway: NA
Sub Pathway: NA
Inchikey: KEMQGTRYUADPNZ

Associated Genomic Regions

Region: rs635619

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):
0.161
Position:
131720265
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
10.236
Reference Allele:
G
-log10(P):
-54.950
MAF:
0.294
Beta (Num):
0.116
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.045
SE (Den):
0.017
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 C5orf56 SLC22A4 P4HA2 IRF1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, carnitine shuttle.6[1], 7[2], 8[3], 9[4], 10[5]

Denominator Metabolite Explanation:

Fatty acid metabolism, synthesis.11[1], 12[2], 13[3]

Ratio Explanation:

The ratio of myristoylcarnitine to margarate may reflect the efficiency of carnitine-dependent fatty acid transport, mediated by SLC22A5, relative to an unrelated fatty acid.6[1], 1[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Variations in SLC22A5 affect carnitine transport and fatty acid oxidation (FAO).1[1], 2[2], 7[3] As FAO is crucial for hematopoietic stem cell function and differentiation, this genetic variation likely impacts mature blood cell counts, such as neutrophils and platelets, reported in the PheWAS.14[4], 15[5], 16[6], 17[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