rs174561

This is a coding sequence variant variant in the FADS1 gene.

▶

GWAS Catalog Trait Associations (21)

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

level of Sphingomyelin (d34:2) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele C
OR 0.17
p 7.0e-23
N 7,174
Large GWAS
European

level of Phosphatidylcholine (O-18:1_20:4) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele C
OR 0.27
p 4.0e-21
N 2,624
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose
AssociationN=73,014Mohsen Ghanbari et al.(2015)· Obesity

Two miRNA genetic variants were identified as significantly associated with cardiometabolic phenotypes: rs11614913 in miR-196a2 associated with waist-to-hip ratio (P=1.7e-25), and rs174561 in miR-1908 associated with lipid and glucose traits. Functional analyses revealed these variants affect pre-miRNA processing and regulate target genes involved in fat distribution and lipid metabolism.

Traits studied:HDL-cholesterolLDL-cholesterolblood pressurebody mass indexcardiometabolic phenotypesfasting glucosetotal cholesteroltriglycerideswaist-to-hip ratio
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…