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

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

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: rs174560

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
-0.198
Position:
61581764
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-12.945
Reference Allele:
T
-log10(P):
-86.585
MAF:
0.308
Beta (Num):
-0.126
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.072
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs1466448

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
-0.250
Position:
8289519
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-14.032
Reference Allele:
A
-log10(P):
-101.315
MAF:
0.191
Beta (Num):
-0.204
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.047
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs686548

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
20
Beta (Ratio):
-0.152
Position:
12973521
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-10.421
Reference Allele:
T
-log10(P):
-56.874
MAF:
0.387
Beta (Num):
-0.033
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.120
SE (Den):
0.014
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects the balance of sphingomyelin species with different fatty acid chain lengths, which is influenced by FADS1 activity on fatty acid precursors.7[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1 variants alter fatty acid desaturation, affecting the composition of sphingomyelins and other lipids.8[1], 9[2] This dyslipidemia is strongly associated with hypercholesterolemia, lipoprotein disorders, and cholelithiasis, likely through effects on cholesterol metabolism and inflammation.10[3], 11[4], 12[5], 13[6]

Phenotype Driver:

Gene-centric:FADS1

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