rs6318

This is a protein-altering variant in the HTR2C gene.

ClinVar annotation

Benign★★★
4 submitters2 publications

HTR2C POLYMORPHISM; not provided; HTR2C-related disorder

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Research that mentions this SNP (6)

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
A candidate gene study of serotonergic pathway genes and pain relief during treatment with escitalopram in patients with neuropathic pain shows significant association to serotonin receptor2C (HTR2C)
AssociationN=34Charlotte Brasch-Andersen et al.(2011)· European Journal of Clinical Pharmacology

A candidate gene study of 34 patients with neuropathic pain found significant association between the serotonin receptor 2C gene (HTR2C rs6318 C allele) and pain relief during escitalopram treatment, with an odds ratio of 15.5 (p=0.014) in men and 10.6 (p=0.010) in combined analysis. Additional genes in the serotonergic pathway including HTR2A, SLC6A4 (5-HTTLPR), CYP2C19, and ABCB1 were also analyzed, with 5-HTTLPR showing a borderline association.

Traits studied:Neuropathic pain response to escitalopram treatmentPeripheral neuropathic pain
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
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
Lack of association between antipsychotic‐induced Parkinsonism or its subsymptoms and rs4606 SNP of RGS2 gene in African‐Caribbeans and the possible role of the medication: The Curacao extrapyramidal syndromes study X
AssociationN=112Asmar F. Al Hadithy et al.(2009)· Human Psychopharmacology: Clinical and Experimental

A candidate gene association study in 112 African-Caribbean psychiatric inpatients examining the relationship between the rs4606 SNP in the RGS2 gene and antipsychotic-induced parkinsonism (AIP) and its subsymptoms (rigidity, tremor, bradykinesia). No significant association was found between rs4606 and AIP or any of its subsymptoms, even after correction for covariates and other SNPs (rs1799732 in DRD2, rs6318 in HTR2C). The authors hypothesized the lack of association may relate to differences in antipsychotic medication types used compared to previous studies showing positive associations in other populations.

Traits studied:Antipsychotic-induced parkinsonismBradykinesiaRest tremorRigidity
Support for association between ADHD and two candidate genes: NET1 and DRD1
AssociationN=484Bobb AJ et al.(2005)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This association study examined 20 polymorphisms from 12 candidate genes in 163 ADHD probands and 129 controls, finding significant associations with two genes: NET1 (rs998424 P=0.009, rs3785157 P=0.002) and DRD1 (rs4532 OR=1.63 P=0.006, rs265981 OR=1.61 P=0.008). The study used both family-based transmission disequilibrium tests and case-control analyses. No significant effects were detected on cognitive, behavioral, or brain MRI measurements.

Traits studied:Attention deficit hyperactivity disorder (ADHD)

About HTR2C

This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]

View all HTR2C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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