rs3733829

This variant is located in the EGLN2 gene.

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GWAS Catalog Trait Associations (2)

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

cigarettes per day measurement

Matoba N et al. “GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture.” Nature Human Behaviour 3(5):471-477 (2019)

Allele A

OR 0.05

p 3.0e-19

N 72,655

Large GWAS

East Asian

Erzurumluoglu AM et al. “Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.” Molecular Psychiatry 25(10):2392-2409 (2020)

Allele A

OR 0.03

p 2.0e-9

N 128,746

Meta-analysisLarge GWAS

multi-ancestry

smoking behavior

“Genome-wide meta-analyses identify multiple loci associated with smoking behavior.” Nature Genetics 42(5):441-7 (2010)

Allele G

OR 0.33

p 1.0e-8

N 74,035

Large GWAS

European

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Research that mentions this SNP (1)

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Converging Evidence for the Association of Functional Genetic Variation in the Serotonin Receptor 2a Gene With Prefrontal Function and Olanzapine Treatment

AssociationN=887Giuseppe Blasi et al.(2013)· JAMA Psychiatry

Association study of 55 SNPs in 887 Hungarian adults examining genetic predisposition to aggression measured by the Buss-Perry Aggression Questionnaire. The HTR2A rs7322347 intronic variant showed significant association with aggression after Bonferroni correction (p = 0.0007), with carriers of the minor A allele showing lower aggression levels. The DRD4 rs916455 variant also showed nominal significance (p = 0.0275) but did not survive multiple testing correction.

Traits studied:Aggressive behaviorAngerHostilityPhysical aggressionVerbal aggression

PubMed DOI Metascience Observatory

About EGLN2

The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]