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

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-linoleoyl-gpe (18:2)*
Metabolite Accession: GCST90199793
Name: 1-linoleoyl-gpe (18:2)*
Hmdb Id: HMDB0011507
Super Pathway: NA
Sub Pathway: NA
Inchikey: DBHKHNGBVGWQJE

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):
-0.382
Position:
61570783
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
-18.737
Reference Allele:
T
-log10(P):
-178.700
MAF:
0.339
Beta (Num):
-0.099
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.283
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and glycerophospholipid pools, which is influenced by FADS1/FADS2 activity on fatty acid precursors.11[1], 12[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters the synthesis of long-chain polyunsaturated fatty acids, affecting the composition of lipid membranes and the production of inflammatory mediators.13[1], 14[2], 15[3] This dysregulation of lipid metabolism is linked to phenotypes like hypercholesterolemia, type 2 diabetes, and inflammatory conditions.16[4], 15[5], 17[6], 18[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