Rs6311

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Orientationplus
is asnp
is mentioned by
dbSNPrs6311
PheGenIrs6311
nextbiors6311
hapmaprs6311
1000 genomesrs6311
hgdprs6311
ensemblrs6311
gopubmedrs6311
geneviewrs6311
scholarrs6311
googlers6311
pharmgkbrs6311
gwascentralrs6311
openSNPrs6311
23andMers6311
23andMe allrs6311
SNP Nexus

SNPshotrs6311
SNPdbers6311
MSV3drs6311
GeneHTR2A
Chromosome13
Orientationplus
GMAF0.4376
Position46897343
ReferenceGRCh38 38.1/141
Max Magnitude3
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.
? (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
rs6311
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.484375
summary



[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