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

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. 1 2 3 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. 1 2 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. S2CID 15040520.
  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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