1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6) to sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.352
Position:
61569830
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-16.683
Reference Allele:
C
-log10(P):
-142.212
MAF:
0.339
Beta (Num):
-0.166
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.186
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Phosphatidylcholine biosynthesis5[1], 6[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism7[1]

Ratio Explanation:

The ratio reflects the balance between phosphatidylcholine species containing a key long-chain fatty acid and certain sphingomyelins, modulated by FADS enzyme activity.3[1], 4[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in the FADS gene cluster are linked to altered lipid profiles, including cholesterol levels, and an increased risk of cholelithiasis (gallstones), likely through the modulation of long-chain polyunsaturated fatty acid and cholesterol metabolism.9[1], 10[2], 11[3], 12[4]

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