rs174570

This variant is located in the FADS2 gene.

GWAS Catalog Trait Associations (40)

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

body height

Allele T
OR 0.02
p 1.0e-146
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Allele T
OR 0.02
p 1.0e-29
N 928,679
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 3.0e-59
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.05
p 7.0e-50
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Allele G
OR
β 0.090
p 2.0e-10
N 22,562
Large GWAS
European

apolipoprotein B measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.05
p 4.0e-46
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.05
p 2.0e-41
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.08
p 7.0e-14
N 38,000
Large GWAS
South Asian
Allele T
OR 0.09
p 1.0e-15
N 5,662
Large GWAS
South Asian

1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement

Allele T
OR 0.20
p 1.0e-39
N 14,296
Large GWAS
European
Allele T
OR 0.24
p 2.0e-26
N 8,261
Large GWAS
European

alkaline phosphatase measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.05
p 5.0e-38
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

Research that mentions this SNP (2)

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
Does parental expressed emotion moderate genetic effects in ADHD? an exploration using a genome wide association scan
AssociationN=909Edmund J.S. Sonuga‐Barke et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This genome-wide association study examined whether parental expressed emotion moderates genetic effects on ADHD symptoms and conduct disorder in 909 family trios (600,000 SNPs genotyped). No gene-by-environment interactions reached genome-wide significance. Nominal effects were observed with 36 uncorrected interaction P-values <10⁻⁵, implicating both novel genes and candidate genes. SNPs in SLC1A1 and NRG3 emerged as candidate genes for follow-up, though the authors emphasize these findings are preliminary and require replication.

Traits studied:ADHD symptomsAttention-Deficit/Hyperactivity Disorder (ADHD)Comorbid conduct disorderConduct Disorder

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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