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.
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]
^
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.
PMID18797395.
S2CID28442642.
^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.
PMID20683774.
S2CID13590411.{{
cite journal}}: CS1 maint: multiple names: authors list (
link)
^Golimbet, V. E., Alfimova, M. V., Kaleda, V. G., Abramova, L. I., Korovaitseva, G. I., Lavrushina, O. M.; et al. (2009). "Schizoaffective psychosis and schizophrenia with- or without affective syndrome: A comparative clinical, neuropsychological and molecular-genetic study". NOVA Science: 70–87.{{
cite journal}}: CS1 maint: multiple names: authors list (
link)