rs7520974
This is a upstream gene variant variant in the CHRM3 gene.
▶Research that mentions this SNP (2)
▶Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICAMethodsN=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.
▶No evidence for association between 19 cholinergic genes and bipolar disorderAssociationN=557Jiajun Shi et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This association study screened 93 SNPs in 19 cholinergic genes (CHAT, CHRM1-5, CHRNA1-7, CHRNA9-10, CHRNB1-4) in two bipolar disorder (BD) pedigree series: NIMH Genetics Initiative (474 samples, 152 families) and Clinical Neurogenetics (83 samples, 22 families). Sib-TDT analysis showed nominally significant association for four SNPs (CHRNA2 rs7017417 P=0.024, CHRNA5 rs514743 P=0.031, CHRNB1 rs2302762 P=0.049, CHRNB4 rs1948 P=0.031), but none reached gene-wide significance after multiple testing correction. The authors conclude that these 19 cholinergic genes are unlikely to play a major role in BD predisposition in these pedigrees.
About CHRM3
The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
View all CHRM3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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