rs6311 (-1438A>G / A-1438G or -1438G>A / G-1438A) is a SNP located upstream (and within the promoter region of) HTR2A.
[PMID 23158458] 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.
[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 19690620] 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 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 20941551] Functional Genomics of Serotonin Receptor 2A (HTR2A): Interaction of Polymorphism, Methylation, Expression and Disease Association
[PMID 22046326] 'Smoking Genes': A Genetic Association Study
[PMID 16642436] 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 18081710] 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 18439448] 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 19359258] Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.
[PMID 19545856] 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 19911060] 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 20008943] Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study.
[PMID 20191112] 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 21162693] Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.
[PMID 21172166] 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.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[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 22717018] 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