sphingomyelin (d18:1/14:0, d16:1/16:0)* to myristoyl dihydrosphingomyelin (d18:0/14:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Denominator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Associated Genomic Regions

Region: rs174536

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):
0.093
Position:
61551927
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
7.935
Reference Allele:
A
-log10(P):
-33.791
MAF:
0.341
Beta (Num):
0.040
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.053
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs4902243

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:
14
Beta (Ratio):
0.456
Position:
64234243
SE (Ratio):
0.015
Effect Allele:
G
Z-score (Ratio):
31.291
Reference Allele:
A
-log10(P):
-493.248
MAF:
0.166
Beta (Num):
0.423
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.033
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid synthesis5[1], 6[2], 7[3]

Ratio Explanation:

This ratio reflects the conversion of a saturated sphingoid base precursor (dihydrosphingomyelin) to an unsaturated product (sphingomyelin), indicating desaturase enzyme activity.8[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1 variants impact the efficiency of fatty acid desaturation, influencing sphingolipid composition, lipoprotein metabolism, and inflammatory responses, which are linked to phenotypes like cholelithiasis and type 2 diabetes.10[1], 11[2], 12[3]

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