Rs6313

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-HT_2A 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-HT_2A 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). A less well investigated SNP of this gene is rs7997012.

Meta-analyses seem to indicate that the SNP is not directly associated with schizophrenia,^[2] not with Alzheimer's Disease,^[3] and two initial studies seem to indicate that it is not associated with Parkinson's Disease.^[4]

There have been multiple studies of the effect of the SNP on clozapine treatment response in schizophrenia.^[5] A meta-analysis published in 1998 found an association.^[6]

Individual studies

Many individual studies investigate possible effects of the polymorphism on, say, a personality trait or a disorder. These may or may not find a significant association, that will need to be replicated in further studies before any major conclussion is attempted.

Examples of individual studies are: A genetic study has found higher extraversion personality score among borderline personality disorder patients for the C-allele.^[7] Another study found a slight association with novelty seeking among Italian mood disorder patients,^[8] whereas a German study noted association with the trait "reward dependence".^[9] A Chinese study found no association with suicidal behavior.^[10] Furthermore, individual studies indicate that the SNP may be associated with rheumatoid arthritis^[11] and not likely with the fibromyalgia syndrome.^[12] One study implicated the C-allele in visual and auditory hallucinations in Late-onset Alzheimer's Disease.^[13]

References