1-palmitoyl-2-linoleoyl-gpi (16:0/18:2) to sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*

Numerator Metabolite

Structure of 1-palmitoyl-2-linoleoyl-gpi (16:0/18:2)
Metabolite Accession: GCST90200332
Name: 1-palmitoyl-2-linoleoyl-gpi (16:0/18:2)
Hmdb Id: HMDB0009784
Super Pathway: NA
Sub Pathway: NA
Inchikey: BSNJSZUDOMPYIR

Denominator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Associated Genomic Regions

Region: rs102275

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):
0.288
Position:
61557803
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
12.821
Reference Allele:
T
-log10(P):
-84.971
MAF:
0.347
Beta (Num):
0.182
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.106
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Ether lipid metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism, Glycerophospholipid metabolism

Ratio Explanation:

The ratio reflects the balance between glycerophosphoinositol and sphingomyelin pools, influenced by FADS-mediated polyunsaturated fatty acid synthesis, impacting membrane composition and cellular signaling.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 are associated with altered polyunsaturated fatty acid levels, which can influence valvular calcification and inflammation, contributing to valvular heart disease.5[1], 6[2], 7[3], 8[4] The same genes are linked to asthma and cholelithiasis, likely through modulation of inflammatory pathways.9[5], 10[6], 11[7], 12[8], 13[9]

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