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From SNPedia

Geno Mag Summary
(C;C) 3 3.6x increased risk of sexual dysfunction when taking SSRI Antidepressants.
(C;T) 2 Normal risk of sexual dysfunction when taking SSRI Antidepressants.
(T;T) 2 Normal (lower) risk of sexual dysfunction when taking SSRI Antidepressants.
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs6311
23andMe allrs6311
SNP Nexus

GWAS Ctlgrs6311
Max Magnitude3
? (C;C) (C;T) (T;T) 28
rs6311 (-1438A>G / A-1438G or -1438G>A / G-1438A) is a SNP located upstream (and within the promoter region of) HTR2A.

[PMID 23158458OA-icon.png] Multiple Regulatory Variants Modulate Expression of 5-Hydroxytryptamine 2A Receptors in Human Cortex. The minor A allele of rs6311 reduces expression of a previously unannotated extension of the 5' untranslated region of HTR2A mRNA. rs6311 together with rs6314 have a modest effect on depression severity, when examined in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study.

[PMID 16814396] Three (rs643627-rs594242-rs6311: A-C-T), two (rs594242-rs6311: C-T) and a single functional (rs6311: T) marker were protective against suicidal behavior. The complementary markers (rs594242-rs6311: G-C and rs6311: C) were associated with increased risk for non-violent and impulsive suicidal behavior. Furthermore, CC-homozygotes for the functional SNP rs6311 reported more anger- and aggression-related behavior.

This SNP has also been reported to be part of a haplotype associated with risk for rheumatoid arthritis. In this report, the risk allele is rs6311(C). [PMID 18006541]

[PMID 15364038] may effect promoter activity (in the presence of a SV40 enhancer, promoter activity was significantly higher with the A allele than a G allele, but only in cell lines expressing endogenous HTR2A)

[PMID 18079067] -1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in development of the nervous system

[PMID 19560507] Interaction of serotonin-related genes affects short-term antidepressant response in major depressive disorder

[PMID 19590397] 5-HTR1A, 5-HTR2A, 5-HTR6, TPH1 and TPH2 polymorphisms and major depression

[PMID 19690620OA-icon.png] Polymorphisms of serotonin receptor 2A and 2C genes and COMT in relation to obesity and type 2 diabetes

[PMID 19647026] Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes

[PMID 20198576] Association between the -1438A/G polymorphism of the serotonin 2A receptor gene and late-onset psoriasis in a Thai population

[PMID 17440930] Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.

[PMID 20589614] No relationship found between -1438A/G polymorphism of the serotonin 2A receptor gene (rs6311) and major depression susceptibility in a northeastern Thai population

[PMID 20827275] Influence of HTR2A polymorphisms and parental rearing on personality traits in healthy Japanese subjects

[PMID 20941551OA-icon.png] Functional Genomics of Serotonin Receptor 2A (HTR2A): Interaction of Polymorphism, Methylation, Expression and Disease Association

[PMID 22046326OA-icon.png] 'Smoking Genes': A Genetic Association Study

[PMID 16642436OA-icon.png] Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment.

[PMID 16876316] Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology.

[PMID 17241828] Association studies of serotonin system candidate genes in early-onset obsessive-compulsive disorder.

[PMID 17590256] 5-HT2A SNPs and the Temperament and Character Inventory.

[PMID 18081710OA-icon.png] Multivariate permutation analysis associates multiple polymorphisms with subphenotypes of major depression.

[PMID 18191318] Association study between obsessive-compulsive disorder and serotonergic candidate genes.

[PMID 18196244] Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility.

[PMID 18439448OA-icon.png] Stress, genes and the biology of suicidal behavior.

[PMID 18797395] Association between the A-1438G polymorphism of the serotonin 2A receptor gene and nonimpulsive suicide attempts.

[PMID 18826444] Serotonergic genes and amygdala activity in response to negative affective facial stimuli in Korean women.

[PMID 19328219] Differential role of serotonergic polymorphisms in alcohol and heroin dependence.

[PMID 19359258OA-icon.png] Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.

[PMID 19545856OA-icon.png] Sensorimotor gating depends on polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase, but not on neuregulin-1 Arg38Gln genotype: a replication study.

[PMID 19911060OA-icon.png] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.

[PMID 19937159] HTR2A is associated with SSRI response in major depressive disorder in a Japanese cohort.

[PMID 20008943OA-icon.png] Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study.

[PMID 20191112OA-icon.png] The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives.

[PMID 20421848] Interactions between functional serotonergic polymorphisms and demographic factors influence personality traits in healthy Spanish Caucasians.

[PMID 20580209] Seasonality and winter-type seasonal depression are associated with the rs731779 polymorphism of the serotonin-2A receptor gene.

[PMID 21136126] Temperament profiles, 5-HT2A genotype, and response to treatment with SSRIs in major depression.

[PMID 21162693OA-icon.png] Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.

[PMID 21172166OA-icon.png] Pharmacogenetics of antidepressant response.

[PMID 21741447] Interaction between two HTR2A polymorphisms and gender is associated with treatment response in MDD.

[PMID 21874579] Pilot study on HTR2A promoter polymorphism, -1438G/A (rs6311) and a nearby copy number variation showed association with onset and severity in early onset obsessive-compulsive disorder.

GET Evidence
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.484375

[PMID 23221997] TPH1, MAOA, serotonin receptor 2A and 2C genes in citalopram response: possible effect in melancholic and psychotic depression

[PMID 23872233] The relationship between the presence of ADHD and certain candidate gene polymorphisms in a Turkish sample

[PMID 23857836] Association between 5HT2A polymorphism and selective serotonin re-uptake inhibitor (SSRI)-induced sexual desire disorder (SDD) among Malaysian women

[PMID 23318131] Association of serotonin-1A and -2A receptor promoter polymorphisms with depressive symptoms, functional recovery, and pain in patients 6 months after lumbar disc surgery

[PMID 22717018OA-icon.png] Escitalopram reduces attentional performance in anxious older adults with high-expression genetic variants at serotonin 2A and 1B receptors

[PMID 24355137] The association of 5-HTR2A-1438A/G, COMTVal158Met, MAOA-LPR, DATVNTR and 5-HTTVNTR gene polymorphisms and borderline personality disorder in female heroin-dependent Chinese subjects

[PMID 23547754] Genetics of serotonin receptors and depression: state of the art.

[PMID 23733030] Pharmacogenetics in major depression: a comprehensive meta-analysis.

[PMID 24968012] Serotonin 2A Receptor Gene (HTR2A) Regulatory Variants: Possible Association with Severity of Depression Symptoms in Children with Autism Spectrum Disorder

[PMID 25174699] Serotonin Receptor Gene (5HT-2A) Polymorphism is Associated with Provoked Vestibulodynia and Comorbid Symptoms of Pain

[PMID 25069264] [Haplotype analysis of serotonin 2A receptor gene polymorphisms and smoking behavior]

[PMID 25758572OA-icon.png] 5-Hydroxytryptamine (serotonin) 2A receptor gene polymorphism is associated with schizophrenia

[PMID 24021217] Common selective serotonin reuptake inhibitor side effects in older adults associated with genetic polymorphisms in the serotonin transporter and receptors: data from a randomized controlled trial

[PMID 26051731] Association study between 5-HT2A and NET gene polymorphisms and recurrent major depression disorder in Chinese han population