Mechanism:

  • Noncoding SNP located in the intron of the BDNF gene [R].

  • "T" allele most likely causes a decrease in BDNF production in areas of the brain such as the hippocampus and amygdala [R1, R2]. Evidence suggests this SNP (T allele) is likely to occur together (LD) with another BDNF SNP, rs6265 (A allele) [R]

  • "A" allele signifies normal BDNF production.

The T (minor) allele is associated with:

  • Major Depressive Disorder (Mexican-American population) [R]. Improved drug response to desipramine treatment in Mexican Americans [R].

  • Possible increased risk of Schizophrenia in Han Chinese when occurring with rs6265 (A allele) and rs10835219 (T allele) SNPs [R].

  • Some evidence suggesting increased risk of PTSD (TT) [R].

The C (major) allele is associated with:

  • The increased presence of the negative symptoms of Schizophrenia, but not susceptibility to schizophrenia, when occurring with rs6265 (A allele) and rs10835219 (A allele) in the Chinese Han population [R]. Negative symptoms refer to feelings or behaviors that are absent or lessened in people with Schizophrenia but are normally present in the general population.

The SNP is associated with (unknown which allele):

  • A pharmacogenetic impact, meaning it can influence responsiveness to certain drugs [R].

  • Schizophrenia [R]

  • Psychiatric disorders including Major Depressive Disorder and schizophrenia, which are also associated with an increased risk of suicide [R].

  • Effects that vary greatly among different ethnic populations [R].

rs12273539

Parent Gene: BDNF

Importance: 3
Less common allele: T = 16%
More common allele: C = 84%
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