rs174575

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

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GWAS Catalog Trait Associations (16)

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

level of 1-(1Z)-hexadecenyl-2-arachidonoyl-sn-glycero-3-phosphocholine in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.25
p 1.0e-42
N 7,435
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 0.53
p 6.0e-16
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 0.14
p 3.0e-15
N 5,662
Large GWAS
South Asian

level of phosphatidylcholine

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 0.08
p 3.0e-15
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 G
OR 0.50
p 4.0e-14
N 650
Small GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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A prospective study of the effects of breastfeeding and FADS2 polymorphisms on cognition and hyperactivity/attention problems
AssociationN=2,560Groen-Blokhuis MM et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Prospective study of 1,313-2,560 Dutch twins examining breastfeeding and FADS2 SNPs (rs174575, rs1535) on cognitive outcomes and behavioral problems. Breastfeeding showed main effects for educational attainment at age 12 (1.3 points) and overactive behavior at age 3 (0.15 points lower), with marginally significant effect on IQ (1.6 points, P=0.05) after maternal education correction. No main effects of FADS2 SNPs and no significant gene-environment interactions between FADS2 polymorphisms and breastfeeding were detected for any phenotype.

Traits studied:Attention problemsAttention-deficit/hyperactivity disorder (ADHD)Educational attainmentHyperactivityIntelligence quotient (IQ)Overactive behavior
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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