sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*

Numerator 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

Denominator Metabolite

Structure of 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*
Metabolite Accession: GCST90200102
Name: 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*
Hmdb Id: HMDB0008008
Super Pathway: NA
Sub Pathway: NA
Inchikey: MMUCLZZSNHBNFL

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):
-0.371
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-19.165
Reference Allele:
T
-log10(P):
-186.826
MAF:
0.346
Beta (Num):
-0.106
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.265
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:

Sphingolipid metabolism, ceramide synthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, fatty acid biosynthesis.6[1]

Ratio Explanation:

The ratio reflects the balance between specific sphingomyelin species and a phosphatidylcholine, likely influenced by FADS1/FADS2-mediated synthesis of their constituent fatty acids.1[1], 2[2], 3[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 affect the composition of polyunsaturated fatty acids in phospholipids, which can influence lipid metabolism.7[1], 6[2] Altered lipid profiles, including those of sphingomyelin and cholesterol, are associated with an increased risk of cholelithiasis and hypercholesterolemia.8[3], 9[4], 10[5], 11[6], 12[7]

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