Rs6295 Explained

Rsid:6295
Name 1:C-1019G
Name 2:C(-1019)G
Gene:HTR1A
Chromosome:5
Region:Promoter
Personalitystudy Inventory 1:NEO PI-R
Personalitystudy Trait 1:Neuroticism
Personalitystudy Pmid 1:14666415
Personalitystudy Genotype 1:G
Personalitystudy Inventory 2:TPQ
Personalitystudy Trait 2:Harm Avoidance
Personalitystudy Pmid 2:14666415
Personalitystudy Genotype 2:G

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]

Notes and 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 . . 18047755 . 11 . 5 . 701–721 . 10.1017/S1461145707008218. free .
  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 . . 25 . 10 . 2586–2590 . 10.1523/JNEUROSCI.3769-04.2005 . 15758168 . 1942077.
  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 . . 23 . 25 . 8788–8799 . 10.1523/JNEUROSCI.23-25-08788.2003 . 14507979. 6740417 .
  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 . . 16626484 . 2 . 1459178 . 14 . 10.1186/1744-9081-2-14. free .
  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 . . 7 . 4 . 441–451 . 10.1017/S1461145704004663 . 15469667. free .
  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 . . 59 . 2 . 106–13 . 10.1016/j.biopsych.2005.06.016 . 16154547. 24485526 .
  7. Dhingra V, Magnay JL, O'Brien PM, Chapman G, Fryer AA, Ismail KM . Serotonin Receptor 1A C(-1019)G Polymorphism Associated With Premenstrual Dysphoric Disorder . . 2007 . 110 . 4 . 788–792 . 10.1097/01.AOG.0000284448.73490.ac . 17906010. 13202883 .
  8. Serretti A . 2004 . The C(–1019)G polymorphism of the 5-HT1A gene promoter and antidepressant response in mood disorders: Preliminary findings . . 15458611 . 7 . 4 . 453–460 . 10.1017/S1461145704004687 . vanc . 1 . Artioli . Paola . Lorenzi . Cristina . Pirovano . Adele . Tubazio . Viviana . Zanardi . Raffaella. 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 . . 14666415 . 110 . 12 . 1445–1453 . 10.1007/s00702-003-0072-0. 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 . . 2 . 7 . 10.1186/1744-9081-2-7 . 16504134 . 1403155. free .
  11. Lorenzi C, Serretti A, Mandelli L, Tubazio V, Ploia C, Smeraldi E . 2005 . 5-HT1A polymorphism and self-transcendence in mood disorders . . 15952185 . 137B . 1 . 33–35 . 10.1002/ajmg.b.30111. 42094601 .
  12. Web site: 14 March 2007 . Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) HTR1A_C1019G . . 2008-06-18.

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