rs1535

This variant is located in the FADS2 gene.

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GWAS Catalog Trait Associations (54)

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

docosapentaenoic acid measurement

Lemaitre RN et al. “Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.” Plos Genetics 7(7):e1002193 (2011)
Allele A
OR —
β 0.070
p 3.0e-152
N 8,866
Meta-analysisMajor Consortium Study
European
Yang C et al. “Genome-wide association studies and fine-mapping identify genomic loci for n-3 and n-6 polyunsaturated fatty acids in Hispanic American and African American cohorts.” Communications Biology 6(1):852 (2023)
Allele A
OR 11.31
p 1.0e-29
N 1,454
Large GWAS
Hispanic or Latin American

1-docosapentaenoyl-GPC (22:5n3) 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 A
OR 0.22
p 5.0e-99
N 14,296
Large GWAS
European

2-linoleoyl-GPE (18:2) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.32
p 3.0e-65
N 6,136
Large GWAS
European

alpha-linolenic acid measurement

Lemaitre RN et al. “Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.” Plos Genetics 7(7):e1002193 (2011)
Allele A
OR —
β 0.020
p 3.0e-63
N 8,866
Meta-analysisMajor Consortium Study
European

level of Phosphatidylcholine (16:0_22:5) 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 G
OR 0.41
p 3.0e-47
N 2,624
Large GWAS
European
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Research that mentions this SNP (2)

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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
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A single nucleotide polymorphism in the FADS1/FADS2 gene is associated with plasma lipid profiles in two genetically similar Asian ethnic groups with distinctive differences in lifestyle
AssociationN=22,207Kazuhiro Nakayama et al.(2010)· Human Genetics

A replication study in 21,004 Japanese and 1,203 Mongolian individuals demonstrated that rs174547 in FADS1/FADS2 is associated with plasma lipid profiles in Asian populations. In Japanese, the C allele was significantly associated with increased triglycerides (P=1.5×10⁻⁶, β=0.04 mg/dl per allele) and decreased HDL-C (P=0.03), while in Mongolians, the C allele was strongly associated with decreased LDL-C (P=2.6×10⁻⁶, β=-5.7 mg/dl per allele). The variable effects across populations despite similar genetic backgrounds suggest gene-environment interaction with dietary polyunsaturated fatty acid intake.

Traits studied:HDL cholesterolLDL cholesterolPlasma lipid profilesTriglycerides
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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