{{Rsnum
|rsid=6311
|Gene=HTR2A
|Chromosome=13
|position=46897343
|Orientation=plus
|GMAF=0.4376
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HTR2A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 27.4 | 52.2 | 20.4
| HCB | 21.9 | 45.3 | 32.8
| JPT | 24.1 | 50.0 | 25.9
| YRI | 39.5 | 46.3 | 14.3
| ASW | 31.6 | 47.4 | 21.1
| CHB | 21.9 | 45.3 | 32.8
| CHD | 13.8 | 55.0 | 31.2
| GIH | 37.6 | 49.5 | 12.9
| LWK | 43.6 | 44.5 | 11.8
| MEX | 36.2 | 51.7 | 12.1
| MKK | 46.8 | 46.2 | 7.1
| TSI | 22.5 | 52.9 | 24.5
| HapMapRevision=28
}}
[[rs6311]] (-1438A>G / A-1438G or -1438G>A / G-1438A) is a SNP located upstream (and within the promoter region of) [[HTR2A]].

{{PMID|23158458|OA=1
}} 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 Auto
|PMID=19560507
|Title=Interaction of serotonin-related genes affects short-term antidepressant response in major depressive disorder
}}
{{PMID Auto
|PMID=19590397
|Title=5-HTR1A, 5-HTR2A, 5-HTR6, TPH1 and TPH2 polymorphisms and major depression
}}

{{PharmGKB
|RSID=rs6311
|Name_s=HTR2A c.-1438G>A, HTR2A:(-1438)G>A
|Gene_s=HTR2A
|Feature=
|Evidence=PubMed ID:19997080
|Annotation=Risk or phenotype-associated allele: A Phenotype: Carriers of the A variant of HTR2A:(-1438)G>A had lower Autism Treatment Evaluation Checklist (ATEC) scores than GG homozygotes, indicating improved symptoms and response to risperidone. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.019 Type of association: PD
|Drugs=risperidone
|Drug Classes=
|Diseases=Autistic Disorder
|Curation Level=Curated
|PharmGKB Accession ID=PA165111369
}}

{{PMID Auto
|PMID=19690620
|Title=Polymorphisms of serotonin receptor 2A and 2C genes and COMT in relation to obesity and type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=19647026
|Title=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 Auto
|PMID=20198576
|Title=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 Auto
|PMID=20589614
|Title=No relationship found between -1438A/G polymorphism of the serotonin 2A receptor gene (rs6311) and major depression susceptibility in a northeastern Thai population
}}
{{PMID Auto
|PMID=20827275
|Title=Influence of HTR2A polymorphisms and parental rearing on personality traits in healthy Japanese subjects
}}
{{PMID Auto
|PMID=20941551
|Title=Functional Genomics of Serotonin Receptor 2A (HTR2A): Interaction of Polymorphism, Methylation, Expression and Disease Association
|OA=1
}}

{{PharmGKB
|RSID=rs6311
|Name_s=HTR2A:-1438G>A
|Gene_s=HTR2A
|Feature=
|Evidence=PubMed ID:17688403; PubMed ID:17804117
|Annotation=Associated with anorexia and bulimia. The AA genotype was found to be a risk factor for tardive dyskinesia (TD).
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145082
}}

{{PharmGKB
|RSID=rs6311
|Name_s=HTR2A: -1438G/A
|Gene_s=HTR2A
|Feature=
|Evidence=PubMed ID:15364038; PubMed ID:18079067
|Annotation=The A allele of -1438G/A is suggested to have increased promoter activity in functional in vitro studies. In silico analysis revealed that the -1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in the development of the nervous system. The SNP was also associated with Chronic fatigue syndrome together with rs 6313 and rs1923884.
|Drugs=
|Drug Classes=
|Diseases=Depression
|Curation Level=Curated
|PharmGKB Accession ID=PA162190493
}}

{{PMID Auto
|PMID=22046326
|Title='Smoking Genes': A Genetic Association Study
|OA=1
}}

{{PMID Auto
|PMID=16642436
|Title=Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment.
|OA=1
}}

{{PMID Auto
|PMID=16876316
|Title=Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology.
}}

{{PMID Auto
|PMID=17241828
|Title=Association studies of serotonin system candidate genes in early-onset obsessive-compulsive disorder.
}}

{{PMID Auto
|PMID=17590256
|Title=5-HT2A SNPs and the Temperament and Character Inventory.
}}

{{PMID Auto
|PMID=18081710
|Title=Multivariate permutation analysis associates multiple polymorphisms with subphenotypes of major depression.
|OA=1
}}

{{PMID Auto
|PMID=18191318
|Title=Association study between obsessive-compulsive disorder and serotonergic candidate genes.
}}

{{PMID Auto
|PMID=18196244
|Title=Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility.
}}

{{PMID Auto
|PMID=18439448
|Title=Stress, genes and the biology of suicidal behavior.
|OA=1
}}

{{PMID Auto
|PMID=18797395
|Title=Association between the A-1438G polymorphism of the serotonin 2A receptor gene and nonimpulsive suicide attempts.
}}

{{PMID Auto
|PMID=18826444
|Title=Serotonergic genes and amygdala activity in response to negative affective facial stimuli in Korean women.
}}

{{PMID Auto
|PMID=19328219
|Title=Differential role of serotonergic polymorphisms in alcohol and heroin dependence.
}}

{{PMID Auto
|PMID=19359258
|Title=Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.
|OA=1
}}

{{PMID Auto
|PMID=19545856
|Title=Sensorimotor gating depends on polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase, but not on neuregulin-1 Arg38Gln genotype: a replication study.
|OA=1
}}

{{PMID Auto
|PMID=19911060
|Title=Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
|OA=1
}}

{{PMID Auto
|PMID=19937159
|Title=HTR2A is associated with SSRI response in major depressive disorder in a Japanese cohort.
}}

{{PMID Auto
|PMID=20008943
|Title=Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study.
|OA=1
}}

{{PMID Auto
|PMID=20191112
|Title=The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives.
|OA=1
}}

{{PMID Auto
|PMID=20421848
|Title=Interactions between functional serotonergic polymorphisms and demographic factors influence personality traits in healthy Spanish Caucasians.
}}

{{PMID Auto
|PMID=20580209
|Title=Seasonality and winter-type seasonal depression are associated with the rs731779 polymorphism of the serotonin-2A receptor gene.
}}

{{PMID Auto
|PMID=21136126
|Title=Temperament profiles, 5-HT2A genotype, and response to treatment with SSRIs in major depression.
}}

{{PMID Auto
|PMID=21162693
|Title=Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.
|OA=1
}}

{{PMID Auto
|PMID=21172166
|Title=Pharmacogenetics of antidepressant response.
|OA=1
}}

{{PMID Auto
|PMID=21741447
|Title=Interaction between two HTR2A polymorphisms and gender is associated with treatment response in MDD.
}}

{{PMID Auto
|PMID=21874579
|Title=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
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6311
|overall_frequency_n=62
|overall_frequency_d=128
|overall_frequency=0.484375
|n_genomes=41
|n_genomes_annotated=0
|n_haplomes=54
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23221997
|Title=TPH1, MAOA, serotonin receptor 2A and 2C genes in citalopram response: possible effect in melancholic and psychotic depression
}}

{{PMID Auto
|PMID=23872233
|Title=The relationship between the presence of ADHD and certain candidate gene polymorphisms in a Turkish sample
}}

{{PMID Auto
|PMID=23857836
|Title=Association between 5HT2A polymorphism and selective serotonin re-uptake inhibitor (SSRI)-induced sexual desire disorder (SDD) among Malaysian women
}}

{{PMID Auto
|PMID=23318131
|Title=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 Auto
|PMID=22717018
|Title=Escitalopram reduces attentional performance in anxious older adults with high-expression genetic variants at serotonin 2A and 1B receptors
|OA=1
}}

{{PMID Auto
|PMID=24355137
|Title=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 Auto
|PMID=23547754
|Title=Genetics of serotonin receptors and depression: state of the art.
}}

{{PMID Auto
|PMID=23733030
|Title=Pharmacogenetics in major depression: a comprehensive meta-analysis.
}}

{{PMID Auto
|PMID=24968012
|Title=Serotonin 2A Receptor Gene (HTR2A) Regulatory Variants: Possible Association with Severity of Depression Symptoms in Children with Autism Spectrum Disorder
}}

{{PMID Auto
|PMID=25174699
|Title=Serotonin Receptor Gene (5HT-2A) Polymorphism is Associated with Provoked Vestibulodynia and Comorbid Symptoms of Pain
}}

{{PMID Auto
|PMID=25069264
|Title=[Haplotype analysis of serotonin 2A receptor gene polymorphisms and smoking behavior]
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}
{{on chip | NatGeo2}}