Rs6295

rs6295, also called C(-1019)G, is a gene variation—a single nucleotide polymorphism (SNP)—in the HTR1A gene. It is one of the most investigated SNPs of its gene.^[1] The C-allele is the most prevalent with 0.675 against the G-allele with 0.325 among Caucasian.^[1]

SNP: rs6295
Name(s)	C-1019G, C(-1019)G
Gene	HTR1A
Chromosome	5
Region	Promoter
External databases
Ensembl	Human SNPView
dbSNP	6295
HapMap	6295
SNPedia	6295

The effect of the SNP on the binding potential of the human 5-HT_1A neuroreceptor has been assessed with positron emission tomography and the WAY-100635 radioligand, with a study reporting no apparent influence from the SNP.^[2]

Disorders

The SNP has been investigated for association with suicide attempts,^[3][4] and psychiatric disorders.^[1] One study found an association of the variant with schizophrenia.^[5] Some studies associate the G-allele or GG-genotype with depression.^[3][6] Not all studies show associations between the disorder and the G-allele. In one study of premenstrual dysphoric disorder C/C was found as the high-risk genotype.^[7]

Several studies have examine the SNP association with medical treatment response, e.g., antidepressant response in mood disorders, e.g., one study reported worse response for G-allele patients.^[8]

Personality

The polymorphism has also been investigated for links to personality traits. Persons with the G-allele of the polymorphism may have higher personality score for the NEO PI-R Neuroticism and TPQ Harm Avoidance traits.^[9] However, not all studies can find a clear association.^[10] One study has studied another trait and found higher score on Temperament and Character Inventory self-transcendence scale for G-allele subjects among mood disorder patients.^[11]

Other SNPs

There are a number of other SNPs for the HTR1A gene: C549T, Ile28Val (rs1799921), Pro16Leu (rs1800041), Gly272Asp (rs1800042) and G294A (rs6294).^[12]