rs3087454

This is a upstream gene variant variant in the CHRNA7 gene.

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Research that mentions this SNP (2)

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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
PubMedDOIMetascience Observatory
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Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA
MethodsN=63Jingyu Liu et al.(2009)· Human Brain Mapping

This paper presents parallel Independent Component Analysis (ICA), a novel multivariate method for jointly analyzing functional MRI and SNP data to identify connections between brain function and genetic variation. Applied to 63 participants (20 schizophrenia patients, 43 controls), the method extracted linked components from 367 SNPs and fMRI data, identifying a genetic component containing SNPs in genes such as DISC1 (rs821616), ADRA2A (rs2429511), and CHRNA7 (rs3087454) that correlated with fMRI-derived brain networks involved in the auditory oddball task.

Traits studied:Auditory oddball taskBrain activation patternsSchizophrenia
PubMedDOIMetascience Observatory

About CHRNA7

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

View all CHRNA7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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