Blushing is considered to be one of the prime pathophysiological markers of social anxiety disorder, potentially mediated
by serotonergic function. Therefore, in the present study 62 patients with social anxiety disorder and 62 age- and sex-matched
healthy controls were investigated for the influence of serotonin transporter (5-HTT) gene variation (5-HTTLPR, rs25531) on
blushing propensity as measured by the blushing propensity scale (BPS). The less active 5-HTTLPR genotypes were nominally
significantly associated with increased blushing propensity in patients with social anxiety disorder as compared to controls
with an equidirectional trend for the less active 5-HTTLPR/rs25531 haplotypes. Even when statistically controlled for influence
of depression, this association remained significant. In summary, the present pilot study suggests a potential role of functional
serotonin transporter gene variation in blushing propensity warranting replication and encouraging genetic analyses of further
intermediate phenotypes of social anxiety disorder.
Keywords Anxiety disorder - Physiological marker - BPS - Intermediate phenotype - Polymorphism - 5-HTTLPR - rs25531
Katharina Domschke and Stephan Stevens contributed equally to this work and should therefore both be considered first authors.