palmitoyl dihydrosphingomyelin (d18:0/16:0)* to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

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

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs12897637

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:
14
Beta (Ratio):
-0.410
Position:
64239351
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
-19.066
Reference Allele:
T
-log10(P):
-184.939
MAF:
0.165
Beta (Num):
-0.188
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.222
SE (Den):
0.019
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.2[1]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis.3[1], 4[2], 5[3]

Ratio Explanation:

The ratio reflects the activity of FADS enzymes on fatty acids subsequently used for sphingomyelin synthesis, indicating a balance between saturated and unsaturated species.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter desaturase activity, affecting the saturated/unsaturated sphingomyelin ratio.6[1], 7[2] This dysregulation of sphingolipid composition is associated with cardiovascular disease, dyslipidemia, and type 2 diabetes.8[3], 9[4], 10[5], 11[6]

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