palmitoylcholine to linoleoylcholine*

Numerator Metabolite

Structure of palmitoylcholine
Metabolite Accession: GCST90200071
Name: palmitoylcholine
Hmdb Id: HMDB0240592
Super Pathway: NA
Sub Pathway: NA
Inchikey: ODYPFMHOOQOHEF

Denominator Metabolite

Structure of linoleoylcholine*
Metabolite Accession: GCST90200130
Name: linoleoylcholine*
Hmdb Id: HMDB0013213
Super Pathway: NA
Sub Pathway: NA
Inchikey: FDCFEKFQGUEBOI

Associated Genomic Regions

Region: rs99780

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):
-0.085
Position:
61596633
SE (Ratio):
0.005
Effect Allele:
T
Z-score (Ratio):
-17.057
Reference Allele:
C
-log10(P):
-148.543
MAF:
0.346
Beta (Num):
-0.016
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.068
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid metabolism3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid metabolism6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects FADS1/FADS2 desaturase activity, where lower activity leads to a higher ratio of saturated (palmitoylcholine) to polyunsaturated (linoleoylcholine) species.9[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters fatty acid desaturation, impacting the palmitoylcholine/linoleoylcholine ratio. This altered lipid metabolism is causally linked to hypercholesterolemia and other disorders of lipoprotein metabolism, which are established risk factors for the development of cholelithiasis (gallstones).10[1], 11[2], 12[3], 13[4]

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