Rs6313 Explained

Rsid:6313
Name 1:T102C
Name 2:102T/C
Name 3:C102T
Name 4:102C/T
Name 5:g.102T>C
Gene:HTR2A
Chromosome:13
Region:Exon 1
Alfred:SI000324J
Alzgene Geneid:218
Alzgene Polyid:564
Szgene Geneid:293
Szgene Polyid:1862

In genetics, rs6313 also called T102C or C102T is a gene variation - a single nucleotide polymorphism (SNP) - in the human HTR2A gene that codes for the 5-HT2A receptor.The SNP is a synonymous substitution located in exon 1 of the gene where it is involved in coding the 34th amino acid as serine.[1]

As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with brain functions and neuropsychiatric disorders, and it is perhaps the most investigated SNP for its gene.Two other SNPs in HTR2A have also received much attention: rs6311 and His452Tyr (rs6314).The T102C polymorphism has been shown to be in complete linkage disequilibrium with the rs6311 (A-1438G).[2] A less well investigated SNP of this gene is rs7997012.

Meta-analyses seem to indicate that the SNP is not directly associated with schizophrenia,[3] not with Alzheimer's disease,[4] and two initial studies seem to indicate that it is not associated with Parkinson's disease.[5]

There have been multiple studies of the effect of this SNP on clozapine treatment response in schizophrenia.[6] A meta-analysis published in 1998 found an association.[7]

Individual studies

Many individual studies have been done to investigate possible effects of the rs6313 polymorphism on phenotypes such as personality traits or disorders and their endophenotypes.

The C-allele has been associated with higher extraversion personality scores among borderline personality disorder[8] patients and the presence of visual and auditory hallucinations in patients with late-onset Alzheimer's disease.[9] Multiple studies have found that individuals with schizophrenia who are homozygous for the C-allele tend to do worse on working memory tasks than do individuals with a T-allele. [10] [11] [12] Rs6313 has also been shown to be associated with novelty seeking among Italian mood disorder patients[13] and reward dependence in a German population.[14] The SNP may also be associated with rheumatoid arthritis.[15] One study found no association between the SNP and suicidal behavior in a Chinese population,[16] and another found no association with fibromyalgia syndrome.[17]

Notes and References

  1. Web site: SNP linked to Gene HTR2A . NCBI.
  2. Saiz. Pilar A.. Garcia-Portilla. Maria P.. Paredes. Begoña. .... Bobes. Julio. Association between the A-1438G polymorphism of the serotonin 2A receptor gene and nonimpulsive suicide attempts. Psychiatric Genetics. 18. 5. 213–218. 29 March 2008. 10.1097/YPG.0b013e3283050ada . 18797395. 28442642.
  3. Web site: Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6313 . . 2008-06-10.
  4. Web site: META-ANALYSIS OF ALL PUBLISHED AD ASSOCIATION STUDIES (CASE-CONTROL ONLY) rs6313 . https://archive.today/20130223125538/http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=218 . dead . 2013-02-23 . . 2008-06-16.
  5. Web site: Bagade S, Allen NC, Tanzi R, Bertram L . GENE OVERVIEW OF ALL PUBLISHED PD-ASSOCIATION STUDIES FOR HTR2A . The PDGene Database. The Michael J. Fox Foundation for Parkinson's Research . 2008-06-16 . dead . https://web.archive.org/web/20110727170204/http://www.pdgene.org/geneoverview.asp?geneid=59 . 2011-07-27.
  6. . Replication validity of genetic association studies . . 29 . 3 . 306–309 . November 2001 . 10.1038/ng749 . 11600885. 6742347 .
  7. . Meta-analysis of studies on genetic variation in 5-HT2A receptors and clozapine response . . 32 . 2 . 93–99 . July 1998 . 9713904 . 10.1016/S0920-9964(98)00032-2. 40604242 .
  8. . Serotonin 2A receptor gene is associated with personality traits, but not to disorder, in patients with borderline personality disorder . . 408 . 3 . November 2006 . 214 - 219 . 10.1016/j.neulet.2006.09.002 . 17000047. 25025900 .
  9. . 1998 . 7 . 9 . 1507–1509 . 5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease . . 10.1093/hmg/7.9.1507 . 9700207. free .
  10. Alfimova, M. V., Monakhov, M. V., Abramova, L. I., Golubev, S. A., & Golimbet, V. E.. Polymorphism of serotonin receptor genes (5-HTR2A) and dysbindin (DTNBP1) and individual components of short-term verbal memory processes in schizophrenia.. Neuroscience and Behavioral Physiology. 40. 8. 2012. 934–940. 10.1007/s11055-010-9348-7. 20683774. 13590411.
  11. Golimbet, V. E., Alfimova, M. V., Kaleda, V. G., Abramova, L. I., Korovaitseva, G. I., Lavrushina, O. M.. Schizoaffective psychosis and schizophrenia with- or without affective syndrome: A comparative clinical, neuropsychological and molecular-genetic study.. NOVA Science. 2009. 70–87 . etal.
  12. Gong, P., Li, J., Wang, J., Lei, X., Chen, D., Zhang, K.. Variations in 5-HT2A influence spatial cognitive abilities and working memory.. Canadian Journal of Neurological Sciences. 38. 2011. 2. 303–308 . 10.1017/S0317167100011513. 21320838. 522327. etal. free.
  13. . 5-HT2A SNPs and the Temperament and Character Inventory . . 31 . 6 . August 2007 . 1275 - 1281 . 10.1016/j.pnpbp.2007.05.008 . 17590256. 2646380 .
  14. . Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder . . 144B . 4 . 424 - 429 . https://archive.today/20130105063530/http://www3.interscience.wiley.com/journal/114210870/abstract . dead . 2013-01-05 . 10.1002/ajmg.b.30412 . 2007 . 17440930. 10374372 .
  15. . Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis . . November 2007 . 10.1136/ard.2007.074948 . 67 . 1111–5 . 18006541 . 8. 3081132 . free .
  16. . Lack of association between three serotonin genes and suicidal behavior in Chinese psychiatric patients . . 32 . 2 . February 2008 . 467 - 471 . 10.1016/j.pnpbp.2007.09.019 . 17964050. 26936650 .
  17. . Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility . . 28 . 7 . May 2008 . 10.1007/s00296-008-0525-8 . 685 - 691 . 18196244. 29817254 .

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