1-stearoyl-2-linoleoyl-gpe (18:0/18:2)* to 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)

Numerator Metabolite

Structure of 1-stearoyl-2-linoleoyl-gpe (18:0/18:2)*
Metabolite Accession: GCST90200039
Name: 1-stearoyl-2-linoleoyl-gpe (18:0/18:2)*
Hmdb Id: HMDB0008994
Super Pathway: NA
Sub Pathway: NA
Inchikey: YDTWOEYVDRKKCR

Denominator Metabolite

Structure of 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Metabolite Accession: GCST90200043
Name: 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Hmdb Id: HMDB0007991
Super Pathway: NA
Sub Pathway: NA
Inchikey: IESVDEZGAHUQJU

Associated Genomic Regions

Region: rs174546

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:
11
Beta (Ratio):
0.448
Position:
61569830
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
19.413
Reference Allele:
C
-log10(P):
-191.622
MAF:
0.339
Beta (Num):
0.283
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.166
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism

Denominator Metabolite Explanation:

Glycerophospholipid metabolism

Ratio Explanation:

The ratio reflects the activity of FADS1 and FADS2, which are involved in the synthesis of long-chain polyunsaturated fatty acids from precursors like linoleic acid (18:2) to derivatives like docosahexaenoic acid (22:6).1[1], 2[2], 3[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 and FADS2 alter the balance of pro-inflammatory and anti-inflammatory polyunsaturated fatty acids, which is a key factor in the development of pure hypercholesterolaemia. This is supported by the significant MR result for this phenotype.4[1], 5[2], 6[3]

Phenotype Driver:

Gene-centric:FADS1/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