rs968567

This is a regulatory region variant variant in the FADS2 gene.

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GWAS Catalog Trait Associations (24)

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

1-dihomo-linolenoyl-GPC (20:3n3 or 6) 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 0.22
p 1.0e-64
N 14,296
Large GWAS
European

lysophosphatidylcholine 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 T
OR 15.33
p 5.0e-53
N 16,839
Large GWAS
European

level of phosphatidylcholine

Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele T
OR 0.39
p 3.0e-43
N 4,492
Large GWAS
European
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele T
OR 12.97
p 2.0e-38
N 16,838
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 T
OR 0.06
p 8.0e-10
N 5,662
Large GWAS
South Asian

dihomo-linolenate 20:3n3 or n6 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 0.17
p 1.0e-37
N 14,296
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.03
p 2.0e-21
N 7,805
Large GWAS
European

level of Phosphatidylcholine (O-16:0_20:3) 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 T
OR 0.27
p 2.0e-23
N 6,709
Large GWAS
European
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 T
OR 0.28
p 1.0e-15
N 4,642
Large GWAS
European

level of Phosphatidylcholine (16:0_20:3) 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 T
OR 0.26
p 3.0e-22
N 7,174
Large GWAS
European
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 T
OR 0.25
p 7.0e-13
N 4,642
Large GWAS
European

1-eicosatrienoylglycerophosphocholine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.04
p 3.0e-19
N 7,809
Large GWAS
European
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Research that mentions this SNP (1)

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Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et al
FunctionalN=16Yumi Tsuchida et al.(2018)· Arthritis &amp; Rheumatology

This functional study integrates epigenomic datasets (ATAC-seq, Hi-C, ChIP-seq, RNA-seq) from fibroblast-like synoviocytes (FLS) to map the functional relevance of 101 fine-mapped rheumatoid arthritis GWAS associations. FLS regulatory elements account for 24% of RA heritability, and the study assigns putative target genes to RA risk loci, identifying TNFAIP3, IFNAR1, CDK6, RBPJ and others as disease-relevant genes. TNF stimulation reveals dynamic chromatin interactions and differential gene expression at RA-associated regulatory regions.

Traits studied:Rheumatoid arthritis
PubMedDOIMetascience Observatory

About FADS2

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 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

View all FADS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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