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rs6318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.5 1.4x increased risk for cardiac events in patients; apparently stress (cortisol) related
(C;G) 0 Female only, since on X ch; appears to mostly be = to common (G;G) genotype
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position114731326
GeneHTR2C
is asnp
is mentioned by
dbSNPrs6318
ebirs6318
HLIrs6318
Exacrs6318
Varsomers6318
Maprs6318
PheGenIrs6318
hapmaprs6318
1000 genomesrs6318
hgdprs6318
ensemblrs6318
gopubmedrs6318
geneviewrs6318
scholarrs6318
googlers6318
pharmgkbrs6318
gwascentralrs6318
openSNPrs6318
23andMers6318
23andMe allrs6318
SNP Nexus

SNPshotrs6318
SNPdbers6318
MSV3drs6318
GWAS Ctlgrs6318
GMAF0.1663
Max Magnitude2.5
? (C;C) (C;G) (G;G) 28
rs6318 (Cys23Ser / C23S or 68G>C / G68C) is a SNP within the serotonin 2C receptor HTR2C gene located on the X chromosome. Since it is located on the X chromosome, males will be hemizygous and either (C;-) or (G;-), whereas females will either homozygous (C;C) or (G;G) or heterozygous (C;G). In most of the studies cited below, heterozyous (C;G) females were roughly statistically equivalent to females carrying the common non-risk (G;G) genotype.

One relatively large (4,000 men and 2,000 women) study published in late 2013 of Caucasian catheterization patients has studied the association between rs6318 genotype and risk of having an "end" cardiac event, defined as either death or a heart attack, in the years following entry into the study (i.e. presumably following their catheterization). Patients were followed for up to 11 years, with a median follow-up time of 5.3 years. Different rs6318 genotypes had statistically significant differences in their odds of having end cardiac events as follows: 29% of (G;-) men; 35% of (C;-) men; ~26% of (G;G) or (C;G) women; and 36% of (C;C) women. This works out to hazard ratios from the fully adjusted model for male rs6318(C;-) compared to the more common (G;-) males of 1.23 (CI: 1.02-1.36, p=0.02), and 1.62 (CI:1.07-2.47, p=0.02) for female (C;C) genotypes compared to the more common (G;G) females. The authors postulate that rs6318 is associated with higher stress-related cortisol levels, and suggest (without any evidence so far) that rs6318(C;C) women and (C;-) men may benefit from either behavioural therapy or the use of a serotonin receptor antagonist such as agomelatine. 10.1371/journal.pone.0082781

[PMID 11526472] 'significant excess of Ser allele carriers in patients compared to normal controls' (in 513 patients with recurrent MDD, 649 patients with bipolar affective disorder, and 901 normal controls)

OMIM312861
DescSEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM
Variant0001
Relatedalso

[PMID 20494452] Further evidence supporting the association between 5HTR2C gene and bipolar disorder

antipsychotics[edit]

[PMID 19997080] in a small sample of 45 autistic patients taking risperidone for up to one year, assoc. w/ prolactin elevation and BMI / waist circumference with risperidone usage

[PMID 19193342] rs6313(T) (102T) allele of HTR2A, the rs5443(T) (825T) allele of GNB3, the Rs6318(G) (23Cys) allele of HTR2C, and the rs1801253(C;C) (64Arg/Arg) genotype of ADRB3, were significantly associated with olanzapine-induced weight gain among 164 schizophrenic (per DSM-IV-TR) psychiatric inpatients

[PMID 18332898] no association with anti-psychotic induced weight gain noted in 104 Caucasian psychiatric inpatients



[PMID 20071033] Comorbidity between bipolar disorder and alcohol use disorder: Association of dopamine and serotonin gene polymorphisms


[PMID 20092861] Further exploration of the possible influence of polymorphisms in HTR2C and 5HTT on body weight


[PMID 20504252] Association of HTR2C, but not LEP or INSIG2, genes with antipsychotic-induced weight gain in a German sample


[PMID 18715570] Serotonin receptor HTR1A and HTR2C variants and personality traits in suicide attempters and controls


[PMID 21614492] 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).


[PMID 21967853OA-icon.png] Cortisol responses to emotional stress in men: association with a functional polymorphism in the 5HTR2C gene.


[PMID 22764241OA-icon.png] Striatal Dopamine Release and Genetic Variation of the Serotonin 2C Receptor in Humans


ClinVar
Risk rs6318(C;C)
Alt rs6318(C;C)
Reference rs6318(G;G)
Significance Non-pathogenic
Disease SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM
Variation info
Gene HTR2C
CLNDBN SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM
Reversed 0
HGVS NC_000023.10:g.113965735G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010563.2,



[PMID 17192951] HTR2C and HTR1A gene variants in German and Italian suicide attempters and completers.


[PMID 17964050] Lack of association between three serotonin genes and suicidal behavior in Chinese psychiatric patients.


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


[PMID 18802918] Focus on HTR2C: A possible suggestion for genetic studies of complex disorders.


[PMID 19032968] Serotonin genes and gene-gene interactions in borderline personality disorder in a matched case-control study.


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


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


GET Evidence
HTR2C-C23S
aa_change Cys23Ser
aa_change_short C23S
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.232964
summary



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


[PMID 24386118OA-icon.png] A Functional Polymorphism in the 5HTR2C Gene Associated with Stress Responses Also Predicts Incident Cardiovascular Events


[PMID 25514629OA-icon.png] A Putatively Functional Polymorphism in the HTR2C Gene is Associated with Depressive Symptoms in White Females Reporting Significant Life Stress