Have questions? Visit https://www.reddit.com/r/SNPedia

SLC6A4

From SNPedia

is agene
is mentioned by
Full namesolute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Other names5-HTT 5-HTTLPR SERT
EntrezGene6532
PheGenI6532
VariationViewer6532
ClinVarSLC6A4
GeneCardsSLC6A4
dbSNP6532
SADR6532
HugeNav6532
wikipediaSLC6A4
googleSLC6A4
gopubmedSLC6A4
EVSSLC6A4
HEFalMpSLC6A4
MyGene2SLC6A4
23andMeSLC6A4
UniProtP31645
EnsemblENSG00000108576
OMIM182138
# SNPs28
 Max MagnitudeChromosome positionSummary
rs104217330,197,993
rs1108012230,220,317
rs1215021430,223,870
rs1244978330,200,635
rs140700030,216,371
rs1407011.530,211,514
rs1696562830,228,407
rs2020933030,234,737
rs202093430,234,442
rs202093630,223,796
rs2020942030,219,896
rs205484730,204,995
rs2066713030,224,647
rs2552830,222,960
rs255312.530,237,328
rs2553230,237,152
rs25533030,235,874
rs28914832030,211,356
rs3438819630,207,451
rs379480830,204,775
rs381303430,197,786
rs4251417030,224,840
rs458330630,211,697
rs479554130,237,341
rs5709833430,221,570
rs635430,222,880
rs807166730,225,755
rs807600530,220,192

The SLC6A4 gene encodes the serotonin transporter, a membrane protein that takes up serotonin in pre-synaptic neurons. SLC6A4 is also known as SERT or 5-HTT, since serotonin is known chemically as 5-hydroxytryptamine. The serotonin system has been studied in many behavioural and physiological conditions.

A wide range of psychiatric disorders or conditions may involve serotonin processing. The main variants of the SLC6A4 gene that have been studied, however, are not SNPs - they are short tandem repeats, also known as VNTRs (variable number tandem repeats). A review of the two VNTR polymorphisms and their potential links to human behaviour is available. [PMID 17168841]

One such polymorphism is known as the 5-HTTLPR variant, where the L allele consists of a 44bp insertion as compared to the S (short or deletion) allele. Another polymorphism is the STin2 (intron 2) VNTR, which involves different alleles that correspond to 12-, 10-, 9-, or 7-repeat units of 17bp. Both of these polymorphisms have been associated in some cases (but not others) with obsessive-compulsive disorder (OCD). Most recently, the STin2.12 carriers were reported to be at over 3x risk of OCD based on a study of ~100 OCD patients.[PMID 18191318]

The efficacy of commonly prescribed antidepressant drugs, such as paroxetine, has also been linked to SLC6A4 VNTR variants.10.1038/sj.tpj.6500491

A few SNPs have been studied; these include:

AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance