branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid* to stearidonate (18:4n3)

Numerator Metabolite

Metabolite Accession: GCST90200249
Name: branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearidonate (18:4n3)
Metabolite Accession: GCST90199721
Name: stearidonate (18:4n3)
Hmdb Id: HMDB0006547
Super Pathway: NA
Sub Pathway: NA
Inchikey: JIWBIWFOSCKQMA

Associated Genomic Regions

Region: rs2727270

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.186
Position:
61603237
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
9.839
Reference Allele:
C
-log10(P):
-50.922
MAF:
0.116
Beta (Num):
0.027
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.159
SE (Den):
0.022
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FADS3 FEN1 TMEM258

Region: rs151154986

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:
14
Beta (Ratio):
-0.556
Position:
74040136
SE (Ratio):
0.036
Effect Allele:
A
Z-score (Ratio):
-15.402
Reference Allele:
G
-log10(P):
-121.568
MAF:
0.029
Beta (Num):
-0.480
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
0.076
SE (Den):
0.043
No CNV overlap
rQTL cluster:
44
Reaction Distance:
NA
Closest Genes:
ACOT2 HEATR4 ACOT4 ACOT1 ACOT6

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism/oxidation.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid (PUFA) synthesis.2[1], 8[2], 9[3]

Ratio Explanation:

The ratio likely reflects the balance between medium-chain fatty acid metabolism (numerator, ACOT2 related) and polyunsaturated fatty acid synthesis (denominator, FADS2 related).

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation at the FADS/ACOT locus alters the balance of fatty acid processing. This lipid dysregulation likely contributes to the pathophysiology of cholelithiasis and type 2 diabetes through impacts on metabolic homeostasis and inflammation.10[1], 11[2], 12[3]

Phenotype Driver:

Gene-centric:FADS2

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