hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-stearoyl-gpc (18:0)

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-stearoyl-gpc (18:0)
Metabolite Accession: GCST90199732
Name: 1-stearoyl-gpc (18:0)
Hmdb Id: HMDB0010384
Super Pathway: NA
Sub Pathway: NA
Inchikey: IHNKQIMGVNPMTC

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):
0.389
Position:
61581764
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
19.262
Reference Allele:
T
-log10(P):
-188.692
MAF:
0.308
Beta (Num):
0.273
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.115
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs964184

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):
-0.211
Position:
116648917
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-7.554
Reference Allele:
C
-log10(P):
-30.796
MAF:
0.131
Beta (Num):
-0.110
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.101
SE (Den):
0.023
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

The ratio may reflect the balance between sphingolipid and glycerophospholipid synthesis, potentially influenced by FADS1's role in providing polyunsaturated fatty acid precursors for both pathways.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, influenced by genetic factors, can shift the balance of fatty acid incorporation into sphingolipids versus glycerophospholipids. This dysregulation of lipid metabolism is associated with an increased risk for various cardiovascular and metabolic diseases, including dyslipidemia, atherosclerosis, and hypertension.3[1], 12[2]

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