rs174545

This variant is located in the FADS1 gene.

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GWAS Catalog Trait Associations (29)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of phosphatidylcholine

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 40.67
p —
N 16,837
Large GWAS
European
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.05
p 1.0e-19
N 5,662
Large GWAS
South Asian
Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele C
OR 0.46
p 8.0e-12
N 650
Small GWAS
European

1-eicosapentaenoyl-GPC (20:5) 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 C
OR 0.26
p 1.0e-137
N 14,296
Large GWAS
European

total cholesterol measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.04
p 5.0e-81
N 480,086
Large GWAS
multi-ancestry

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 2.0e-38
N 581,817
Major Consortium StudyLarge GWAS
multi-ancestry

delta-6 desaturase measurement

Dorajoo R et al. “A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population.” Genes & Nutrition 10(6):53 (2015)
Allele G
OR 0.24
p 5.0e-37
N 1,361
Large GWAS
East Asian

1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) 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 C
OR 0.16
p 2.0e-36
N 14,296
Large GWAS
European

triglycerides:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.05
p 1.0e-35
N 136,016
Large GWAS
multi-ancestry

lysophosphatidylcholine measurement

Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele G
OR 0.62
p 2.0e-22
N 650
Small GWAS
European
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele G
OR 0.09
p 1.0e-19
N 5,662
Large GWAS
South Asian

serum metabolite level

Li Y et al. “Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.” Journal of the American Society of Nephrology : Jasn 29(5):1513-1524 (2018)
Allele G
OR 0.41
p 7.0e-21
N 1,143
Large GWAS
European
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Research that mentions this SNP (1)

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Strategies and issues in the detection of pathway enrichment in genome-wide association studies
MethodsN=28,191Mun-Gwan Hong et al.(2009)· Human Genetics

This methodological study develops ProxyGeneLD software for converting genome-wide SNP association data to pathway-enriched gene sets and validates it on multiple large GWAS datasets. The authors demonstrate successful replication of pathway enrichment for plasma HDL levels (with CETP and ABCA1 in lipid metabolism pathways) across independent samples and identify positional gene clustering as a major source of spurious enrichment in pathway analyses of GWAS data.

Traits studied:Crohn's diseasePlasma HDL cholesterolPlasma LDL cholesterolPlasma triglyceride levelsType 2 diabetes
PubMedDOIMetascience Observatory

About FADS1

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

View all FADS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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