palmitoyl sphingomyelin (d18:1/16:0) to lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

Structure of lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Metabolite Accession: GCST90200098
Name: lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: MKOKWBRPIBQYJJ

Associated Genomic Regions

Region: rs3752246

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:
19
Beta (Ratio):
0.361
Position:
1056492
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
20.720
Reference Allele:
C
-log10(P):
-217.920
MAF:
0.175
Beta (Num):
-0.009
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.370
SE (Den):
0.020
No CNV overlap
rQTL cluster:
12
Reaction Distance:
NA
Closest Genes:
ABCA7 HMHA1 CNN2 POLR2E TMEM259

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Glycosphingolipid biosynthesis.6[1], 7[2]

Ratio Explanation:

This ratio may reflect the activity of ABCA7, where altered function could shift sphingolipid metabolism, impacting the balance between sphingomyelin and complex glycosphingolipids like lactosylceramides.8[1], 1[2], 9[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced ABCA7 function alters sphingolipid transport and metabolism, impacting the composition of red blood cell membranes, which contain both sphingomyelin and glycosphingolipids.10[1], 11[2] This alteration is linked to changes in red blood cell indices such as MCHC, MCV, and overall RBC count.12[3]

Phenotype Driver:

Gene-centric:ABCA7

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