rs113994167 - ACADVL
Magnitude 4.5 · 1 study on file
Reported associations
-
Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort - Unknown journal (n.d.) · Unknown authors · PubMed 35888728
ABSTRACT: Metabolites are intermediates or end products of biochemical processes involved in both health and disease. Here, we take advantage of the well-characterized Cooperative Health Research in South Tyrol (CHRIS) study to perform an exome-wide association study (ExWAS) on absolute concentrations of 175 metabolites in 3294 individuals. To increase power, we imputed the identified variants into an additional 2211 genotyped individuals of CHRIS. In the resulting dataset of 5505 individuals, we identified 85 single-variant genetic associations, of which 39 have not been reported previously. Fifteen associations emerged at ten variants with >5-fold enrichment in CHRIS compared to non-Finnish Europeans reported in the gnomAD database. For example, the CHRIS-enriched ETFDH stop gain variant
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
-
Plasma acylcarnitine profile High
rs113994167 risk allele (C) is strongly associated with elevated tetradecenoylcarnitine, reflecting impaired long-chain fatty acid oxidation capacity
Obtain baseline plasma carnitine and acylcarnitine profile, paying particular attention to C14 and other medium-long-chain species
Discuss with your doctor
-
ACADVL-related disorder screening High
Pathogenic ACADVL variants impair very long-chain acyl-CoA dehydrogenase, causing fatty acid oxidation deficiency with risk of acute muscle breakdown and metabolic decompensation
Discuss with physician whether clinical evaluation for VLCAD deficiency is warranted and whether additional genetic counseling is appropriate
- ClinVar:21025