rs2286963
This is a variant in the ACADL gene that changes a lysine to an glutamine.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
metabolite measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.96
p —
N 4,670
Large GWAS
European
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele T
OR 0.32
p 4.0e-14
N 2,466
Large GWAS
multi-ancestry
Illig T et al. “A genome-wide perspective of genetic variation in human metabolism.” Nature Genetics 42(2):137-41 (2010)
Allele T
OR 0.22
p 3.0e-60
N 1,029
Large GWAS
European
X-13431 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.54
p —
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.51
p 9.0e-247
N 8,809
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.64
p —
N 8,161
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.48
p 3.0e-168
N 4,949
Large GWAS
European
urinary metabolite measurement
Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)
Allele G
OR 1.54
p 4.0e-181
N 1,221
Large GWAS
carnitine measurement
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele G
OR 26.87
p 5.0e-159
N 13,925
Large GWAS
European
nonaylcarnitine measurement
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele T
OR —
β 0.206
p 3.0e-118
N 4,562
Large GWAS
European
C9 carnitine measurement
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele G
OR 0.53
p 2.0e-36
N 2,466
Large GWAS
multi-ancestry
X-23641 measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.22
p 5.0e-32
N 4,896
Large GWAS
European
ribulose-phosphate 3-epimerase measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.12
p 1.0e-17
N 10,708
Large GWAS
European
nonanoylcarnitine (C9) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.17
p 1.0e-11
N 4,021
Large GWAS
multi-ancestry
▶ClinVar annotation
About ACADL
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
View all ACADL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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