Rs6311

rs6311 (-1438A>G / A-1438G or -1438G>A / G-1438A) is a SNP located upstream (and within the promoter region of) HTR2A.

Multiple Regulatory Variants Modulate Expression of 5-Hydroxytryptamine 2A Receptors in Human Cortex. The minor A allele of rs6311 reduces expression of a previously unannotated extension of the 5' untranslated region of HTR2A mRNA. rs6311 together with rs6314 have a modest effect on depression severity, when examined in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study.

Three (rs643627-rs594242-rs6311: A-C-T), two (rs594242-rs6311: C-T) and a single functional (rs6311: T) marker were protective against suicidal behavior. The complementary markers (rs594242-rs6311: G-C and rs6311: C) were associated with increased risk for non-violent and impulsive suicidal behavior. Furthermore, CC-homozygotes for the functional SNP rs6311 reported more anger- and aggression-related behavior.

This SNP has also been reported to be part of a haplotype associated with risk for rheumatoid arthritis. In this report, the risk allele is rs6311(C).

may effect promoter activity (in the presence of a SV40 enhancer, promoter activity was significantly higher with the A allele than a G allele, but only in cell lines expressing endogenous HTR2A)

-1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in development of the nervous system

Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder.