rs6295

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]

SNP: rs6295
Name(s)C-1019G, C(-1019)G
GeneHTR1A
Chromosome5
RegionPromoter
External databases
EnsemblHuman SNPView
dbSNP6295
HapMap6295
SNPedia6295

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. Drago A, De Ronchi D, Serretti A (2008). "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. doi:10.1017/S1461145707008218. PMID 18047755.
  2. David SP, Murthy NV, Rabiner EA, Munafó MR, Johnstone EC, Jacob R, Walton RT, Grasby RM (2005). "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. doi:10.1523/JNEUROSCI.3769-04.2005. PMC 1942077. PMID 15758168.
  3. Lemonde S, Turecki G, Bakish D, Du L, Hrdina PD, Bown CD, Sequeira A, Kushwaha N, Morris SJ, Basak A, Ou XM, Albert PR (2003). "Impaired Repression at a 5-Hydroxytryptamine 1A Receptor Gene Polymorphism Associated with Major Depression and Suicide". The Journal of Neuroscience. 23 (25): 8788–8799. doi:10.1523/JNEUROSCI.23-25-08788.2003. PMC 6740417. PMID 14507979.
  4. Wasserman D, Geijer T, Sokolowski M, Rozanov V, Wasserman J (2006). "The serotonin 1A receptor C(-1019)G polymorphism in relation to suicide attempt". Behavioral and Brain Functions. 2: 14. doi:10.1186/1744-9081-2-14. PMC 1459178. PMID 16626484.
  5. Huang YY, Battistuzzi C, Oquendo MA, Harkavy-Friedman J, Greenhill L, Zalsman G, Brodsky B, Arango V, Brent DA, Mann JJ (2004). "Human 5-HT1A receptor C(−1019)G polymorphism and psychopathology". The International Journal of Neuropsychopharmacology. 7 (4): 441–451. doi:10.1017/S1461145704004663. PMID 15469667.
  6. Parsey RV, Oquendo MA, Ogden RT, Olvet DM, Simpson N, Huang YY, Van Heertum RL, Arango V, Mann JJ (2006). "Altered serotonin 1A binding in major depression: a [carbonyl-C-11]WAY100635 positron emission tomography study". Biological Psychiatry. 59 (2): 106–13. doi:10.1016/j.biopsych.2005.06.016. PMID 16154547. S2CID 24485526.
  7. Dhingra V, Magnay JL, O'Brien PM, Chapman G, Fryer AA, Ismail KM (2007). "Serotonin Receptor 1A C(-1019)G Polymorphism Associated With Premenstrual Dysphoric Disorder". Obstetrics & Gynecology. 110 (4): 788–792. doi:10.1097/01.AOG.0000284448.73490.ac. PMID 17906010. S2CID 13202883.
  8. 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.
  9. Strobel A, Gutknecht L, Rothe C, Reif A, Mössner R, Zeng Y, Brocke B, Lesch KP (2003). "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. doi:10.1007/s00702-003-0072-0. PMID 14666415. S2CID 38941960.
  10. Koller G, Bondy B, Preuss UW, Zill P, Soyka M (2006). "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. doi:10.1186/1744-9081-2-7. PMC 1403155. PMID 16504134.
  11. Lorenzi C, Serretti A, Mandelli L, Tubazio V, Ploia C, Smeraldi E (2005). "5-HT1A polymorphism and self-transcendence in mood disorders". American Journal of Medical Genetics Part B. 137B (1): 33–35. doi:10.1002/ajmg.b.30111. PMID 15952185. S2CID 42094601.
  12. "Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) HTR1A_C1019G". Schizophrenia Research Forum. 14 March 2007. Retrieved 18 June 2008.

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