Biology:rs6295
| SNP: rs6295 | |
|---|---|
| Name(s) | C-1019G, C(-1019)G |
| Gene | HTR1A |
| Chromosome | 5 |
| Region | Promoter |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | 6295 |
| HapMap | 6295 |
| SNPedia | 6295 |
rs6295, also called C(-1019)G, is a gene variation—a single nucleotide polymorphism (SNP)—in the HTR1A gene. It is one of the most investigated SNPs of its gene.[1] The C-allele is the most prevalent with 0.675 against the G-allele with 0.325 among Caucasian.[1]
The effect of the SNP on the binding potential of the human 5-HT1A neuroreceptor has been assessed with positron emission tomography and the WAY-100635 radioligand, with a study reporting no apparent influence from the SNP.[2]
Disorders
The SNP has been investigated for association with suicide attempts,[3][4] and psychiatric disorders.[1] One study found an association of the variant with schizophrenia.[5] Some studies associate the G-allele or GG-genotype with depression.[3][6] Not all studies show associations between the disorder and the G-allele. In one study of premenstrual dysphoric disorder C/C was found as the high-risk genotype.[7]
Several studies have examine the SNP association with medical treatment response, e.g., antidepressant response in mood disorders, e.g., one study reported worse response for G-allele patients.[8]
Personality
The polymorphism has also been investigated for links to personality traits. Persons with the G-allele of the polymorphism may have higher personality score for the NEO PI-R Neuroticism and TPQ Harm Avoidance traits.[9] However, not all studies can find a clear association.[10] One study has studied another trait and found higher score on Temperament and Character Inventory self-transcendence scale for G-allele subjects among mood disorder patients.[11]
Other SNPs
There are a number of other SNPs for the HTR1A gene: C549T, Ile28Val (rs1799921), Pro16Leu (rs1800041), Gly272Asp (rs1800042) and G294A (rs6294).[12]
References
- ↑ 1.0 1.1 1.2 "5-HT1A gene variants and psychiatric disorders: a review of current literature and selection of SNPs for future studies". International Journal of Neuropsychopharmacology 11 (5): 701–721. 2008. doi:10.1017/S1461145707008218. PMID 18047755.
- ↑ "A functional genetic variation of the serotonin (5-HT) transporter affects 5-HT1A receptor binding in humans". The Journal of Neuroscience 25 (10): 2586–2590. 2005. doi:10.1523/JNEUROSCI.3769-04.2005. PMID 15758168.
- ↑ 3.0 3.1 "Impaired Repression at a 5-Hydroxytryptamine 1A Receptor Gene Polymorphism Associated with Major Depression and Suicide". The Journal of Neuroscience 23 (25): 8788–8799. 2003. doi:10.1523/JNEUROSCI.23-25-08788.2003. PMID 14507979.
- ↑ "The serotonin 1A receptor C(-1019)G polymorphism in relation to suicide attempt". Behavioral and Brain Functions 2: 14. 2006. doi:10.1186/1744-9081-2-14. PMID 16626484.
- ↑ "Human 5-HT1A receptor C(−1019)G polymorphism and psychopathology". The International Journal of Neuropsychopharmacology 7 (4): 441–451. 2004. doi:10.1017/S1461145704004663. PMID 15469667.
- ↑ "Altered serotonin 1A binding in major depression: a [carbonyl-C-11]WAY100635 positron emission tomography study". Biological Psychiatry 59 (2): 106–13. 2006. doi:10.1016/j.biopsych.2005.06.016. PMID 16154547.
- ↑ "Serotonin Receptor 1A C(-1019)G Polymorphism Associated With Premenstrual Dysphoric Disorder". Obstetrics & Gynecology 110 (4): 788–792. 2007. doi:10.1097/01.AOG.0000284448.73490.ac. PMID 17906010.
- ↑ Serretti A et al. (2004). "The C(–1019)G polymorphism of the 5-HT1A gene promoter and antidepressant response in mood disorders: Preliminary findings". International Journal of Neuropsychopharmacology 7 (4): 453–460. doi:10.1017/S1461145704004687. PMID 15458611.
- ↑ "Allelic variation in 5-HT 1A receptor expression is associated with anxiety- and depression-related personality traits". Journal of Neural Transmission 110 (12): 1445–1453. 2003. doi:10.1007/s00702-003-0072-0. PMID 14666415.
- ↑ "The C(-1019)G 5-HT1A promoter polymorphism and personality traits: no evidence for significant association in alcoholic patients". Behavioral and Brain Functions 2: 7. 2006. doi:10.1186/1744-9081-2-7. PMID 16504134.
- ↑ "5-HT1A polymorphism and self-transcendence in mood disorders". American Journal of Medical Genetics Part B 137B (1): 33–35. 2005. doi:10.1002/ajmg.b.30111. PMID 15952185.
- ↑ "Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) HTR1A_C1019G". Schizophrenia Research Forum. 14 March 2007. http://www.schizophreniaforum.org/res/sczgene/meta.asp?geneID=335.
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