hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1,2-dipalmitoyl-gpc (16:0/16:0)

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 1,2-dipalmitoyl-gpc (16:0/16:0)
Metabolite Accession: GCST90199660
Name: 1,2-dipalmitoyl-gpc (16:0/16:0)
Hmdb Id: HMDB0000564
Super Pathway: NA
Sub Pathway: NA
Inchikey: KILNVBDSWZSGLL

Associated Genomic Regions

Region: rs102275

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):
0.492
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
25.648
Reference Allele:
T
-log10(P):
-332.376
MAF:
0.347
Beta (Num):
0.272
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.221
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.7[1], 8[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.9[1], 10[2], 11[3], 12[4], 13[5]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and phosphatidylcholine pools, which can be influenced by FADS1's role in providing polyunsaturated fatty acid precursors.9[1], 3[2], 10[3], 14[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 are linked to altered FADS1 expression and activity, influencing the balance of specific lipids.3[1], 4[2], 6[3], 14[4] This dyslipidemia, particularly affecting cholesterol and triglyceride levels, is associated with an increased risk for pure hypercholesterolemia and cholelithiasis.15[5], 14[6], 16[7]

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