rs10108011

This is a regulatory region variant variant in the PPP3CC gene.

Research that mentions this SNP (2)

Association of RANBP1 haplotype with smooth pursuit eye movement abnormality
ReviewHyun Sub Cheong et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

Traits studied:Alzheimer diseaseAntipsychotic drug responseAntipsychotic drug side effectsAnxiety disordersBipolar disorderCNS disordersDepressive disorderParkinson's diseasePsychotic disordersSchizoaffective disorderSchizophreniaTardive dyskinesiaVascular dementia
Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults
AssociationN=102Zi-Hong He et al.(2010)· European Journal of Applied Physiology

This study examined 55 polymorphisms in five calcineurin genes (PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2) in 102 young Chinese men for associations with cardiac phenotypes at baseline and training responsiveness after 18 weeks of endurance training. Key findings: rs3763679 in PPP3CB was significantly associated with resting heart rate at baseline; rs1879793, rs1075534, rs7430, rs2461483, and rs10108011 in PPP3CC were associated with cardiac output/stroke volume response to exercise; rs1407877 in PPP3R2 was associated with ejection fraction response at 50W.

Traits studied:Cardiac outputCardiac phenotypesEjection fractionLeft ventricular massResting heart rateStroke volumeTraining responsiveness

About PPP3CC

Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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