Biology:rs6313

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Short description: Single nucleotide polymorphism in human HTR2A gene

SNP: rs6313
Name(s)T102C, 102T/C, C102T, 102C/T, g.102T>C
GeneHTR2A
Chromosome13
RegionExon 1
External databases
EnsemblHuman SNPView
dbSNP6313
HapMap6313
SNPedia6313
ALFREDSI000324J
AlzGeneMeta-analysis
Overview
SzGeneMeta-analysis
Overview

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]

References

  1. ↑ "SNP linked to Gene HTR2A". NCBI. https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=3356. 
  2. ↑ Saiz, Pilar A.; Garcia-Portilla, Maria P.; Paredes, Begoña; .... Bobes, Julio (29 March 2008). "Association between the A-1438G polymorphism of the serotonin 2A receptor gene and nonimpulsive suicide attempts". Psychiatric Genetics 18 (5): 213–218. doi:10.1097/YPG.0b013e3283050ada. PMID 18797395. 
  3. ↑ "Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6313". Schizophrenia Research Forum. http://www.schizophreniaforum.org/res/sczgene/meta.asp?geneID=293. 
  4. ↑ "META-ANALYSIS OF ALL PUBLISHED AD ASSOCIATION STUDIES (CASE-CONTROL ONLY) rs6313". Alzheimer Research Forum. http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=218. 
  5. ↑ "GENE OVERVIEW OF ALL PUBLISHED PD-ASSOCIATION STUDIES FOR HTR2A". The PDGene Database. The Michael J. Fox Foundation for Parkinson's Research. http://www.pdgene.org/geneoverview.asp?geneid=59. 
  6. ↑ John P. A. Ioannidis, Evangelia E. Ntzani, Thomas A. Trikalinos & Despina G. Contopoulos-Ioannidis (November 2001). "Replication validity of genetic association studies". Nature Genetics 29 (3): 306–309. doi:10.1038/ng749. PMID 11600885. 
  7. ↑ M. J. Arranz, J. Munro, P. Sham, G. Kirov, R. M. Murray, D. A. Collier & R. W. Kerwin (July 1998). "Meta-analysis of studies on genetic variation in 5-HT2A receptors and clozapine response". Schizophrenia Research 32 (2): 93–99. doi:10.1016/S0920-9964(98)00032-2. PMID 9713904. 
  8. ↑ Xingqun Ni, Ramprasad Bismil, Kirsten Chan, Tricia Sicard, Natalie Bulgin, Shelley McMain and James L. Kennedy (November 2006). "Serotonin 2A receptor gene is associated with personality traits, but not to disorder, in patients with borderline personality disorder". Neuroscience Letters 408 (3): 214–219. doi:10.1016/j.neulet.2006.09.002. PMID 17000047. 
  9. ↑ Clive Holmes, Maria J. Arranz, John F. Powell, David A. Collier and Simon Lovestone (1998). "5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease". Human Molecular Genetics 7 (9): 1507–1509. doi:10.1093/hmg/7.9.1507. PMID 9700207. 
  10. ↑ Alfimova, M. V., Monakhov, M. V., Abramova, L. I., Golubev, S. A., & Golimbet, V. E. (2012). "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): 934–940. doi:10.1007/s11055-010-9348-7. PMID 20683774. 
  11. ↑ Golimbet, V. E., Alfimova, M. V., Kaleda, V. G., Abramova, L. I., Korovaitseva, G. I., Lavrushina, O. M. (2009). "Schizoaffective psychosis and schizophrenia with- or without affective syndrome: A comparative clinical, neuropsychological and molecular-genetic study.". NOVA Science: 70–87. 
  12. ↑ Gong, P., Li, J., Wang, J., Lei, X., Chen, D., Zhang, K. (2011). "Variations in 5-HT2A influence spatial cognitive abilities and working memory.". Canadian Journal of Neurological Sciences 38 (2): 303–308. doi:10.1017/S0317167100011513. PMID 21320838. 
  13. ↑ Alessandro Serretti, Raffaella Calati, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Cristina Colombo and Dan Rujescu (August 2007). "5-HT2A SNPs and the Temperament and Character Inventory". Progress in Neuro-Psychopharmacology and Biological Psychiatry 31 (6): 1275–1281. doi:10.1016/j.pnpbp.2007.05.008. PMID 17590256. 
  14. ↑ Paul G. Unschuld, Marcus Ising, Angelika Erhardt, Susanne Lucae, Stefan Kloiber, Martin Kohli, Daria Salyakina, Tobias Welt, Nikola Kern, Roselind Lieb, Manfred Uhr, Elisabeth B. Binder, Bertram Müller-Myhsok, Florian Holsboer, Martin E. Keck (2007). "Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder". American Journal of Medical Genetics Part B 144B (4): 424–429. doi:10.1002/ajmg.b.30412. PMID 17440930. http://www3.interscience.wiley.com/journal/114210870/abstract. 
  15. ↑ Anders Kling, Maria Seddighzadeh, Lisbeth Ärlestig, Lars Alfredsson, Solbritt Rantapaa-Dahlqvist and Leonid Padyukov (November 2007). "Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis". Ann Rheum Dis 67 (8): 1111–5. doi:10.1136/ard.2007.074948. PMID 18006541. http://ard.bmj.com/cgi/content/abstract/ard.2007.074948v2. 
  16. ↑ Jing Zhang, Yifeng Shen, Guang He, Xingwang Li, Junwei Meng, Shengzhen Guo, Huafang Li, Niufan Gu, Guoyin Feng and Lin He (February 2008). "Lack of association between three serotonin genes and suicidal behavior in Chinese psychiatric patients". Progress in Neuro-Psychopharmacology and Biological Psychiatry 32 (2): 467–471. doi:10.1016/j.pnpbp.2007.09.019. PMID 17964050. 
  17. ↑ Berna Tander, Sezgin Gunes, Omer Boke, Gamze Alayli, Nurten Kara, Hasan Bagci and Ferhan Canturk (May 2008). "Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility". Rheumatology International 28 (7): 685–691. doi:10.1007/s00296-008-0525-8. PMID 18196244. 




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