rs2230469

This is a protein-altering variant in the PIP4K2A gene.

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GWAS Catalog Trait Associations (1)

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

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.10
p 1.0e-8
N 1,028,980
Large GWAS
multi-ancestry
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.12
p 2.0e-9
N 810,865
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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Association of GSK3β Polymorphisms With Brain Structural Changes in Major Depressive Disorder
AssociationN=149Becky Inkster et al.(2009)· Archives of General Psychiatry

A targeted sequencing study of 115 patients with bipolar disorder and depression identified genetic variants in NRG1, PIP4K2A, and HTR2C associated with treatment response and disease severity. The allele C of rs35641374 (NRG1) was associated with longer intervals between depressive episodes (p=4.37e-07), while the allele C of rs10508649 (PIP4K2A) was associated with longer intervals between manic/mixed episodes (p=0.000309) and treatment resistance assessed by CGI-I scale (p=0.000943). The allele A of rs2248440 (HTR2C) was associated with higher depression severity (p=0.003).

Traits studied:Antidepressant treatment responseBipolar affective disorderDepression severityDepressive episodeRecurrent depressive disorderTime to recurrence of depressive episodesTime to recurrence of manic/mixed episodes
PubMedDOIMetascience Observatory
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Focus on HTR2C: A possible suggestion for genetic studies of complex disorders
AssociationN=149Antonio Drago et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This targeted sequencing association study of 115 psychiatric patients and 34 controls identifies NRG1, PIP4K2A, and HTR2C as candidate biomarker genes for antidepressant treatment response and mood disorder recurrence. Key findings include rs35641374 (NRG1) associated with longer time to depressive recurrence in bipolar disorder (p=4.37e-07), rs61731109 and rs10508649 (PIP4K2A) associated with antidepressant non-response (p=0.00111 and p=0.000943), and rs2248440 (HTR2C) associated with higher depression severity (p=0.003).

Traits studied:Antidepressant treatment responseBipolar I disorderBipolar II disorderBipolar disorderDepression severityMajor depressive disorderRemission statusTime to recurrence of depressive episodeTime to recurrence of manic/mixed episode
PubMedDOIMetascience Observatory

About PIP4K2A

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

View all PIP4K2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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