Rs6313

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 directly associated with schizophrenia,[3] 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]

  1. ^ "SNP linked to Gene HTR2A". NCBI.
  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. S2CID 28442642.
  3. ^ "Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6313". Schizophrenia Research Forum. Retrieved 2008-06-10.
  4. ^ "META-ANALYSIS OF ALL PUBLISHED AD ASSOCIATION STUDIES (CASE-CONTROL ONLY) rs6313". Alzheimer Research Forum. Archived from the original on 2013-02-23. Retrieved 2008-06-16.
  5. ^ 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. Archived from the original on 2011-07-27. Retrieved 2008-06-16.
  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. S2CID 6742347.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  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. S2CID 40604242.{{cite journal}}: CS1 maint: multiple names: authors list (link)