palmitoyl dihydrosphingomyelin (d18:0/16:0)* to 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator Metabolite

Structure of 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Metabolite Accession: GCST90200037
Name: 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Hmdb Id: HMDB0008039
Super Pathway: NA
Sub Pathway: NA
Inchikey: FORFDCPQKJHEBF

Associated Genomic Regions

Region: rs174547

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):
-0.277
Position:
61570783
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-15.671
Reference Allele:
T
-log10(P):
-125.770
MAF:
0.339
Beta (Num):
-0.050
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.227
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3], 9[4]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.10[1], 11[2], 12[3]

Ratio Explanation:

This ratio reflects FADS desaturase activity, comparing a saturated sphingolipid to a phosphatidylcholine with a polyunsaturated fatty acid, indicating fatty acid pool alterations.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter fatty acid desaturation, influencing the balance of saturated and polyunsaturated lipids. This dysregulation is linked to hypercholesterolemia and other lipid metabolism disorders, likely by affecting membrane composition and lipid signaling pathways relevant to these conditions.13[1], 14[2], 15[3], 16[4], 17[5]

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