A polymorphism in the human serotonin 5-HT2A receptor gene may protect against systemic sclerosis by reducing platelet aggregation
Beretta L et al. – The His452Tyr substitution may influence susceptibility to systemic sclerosis by altering platelet aggregation in response to 5-HT. Methods- Aim was to to determine if His452Tyr substitution, was associated with blunted intracellular responses after serotonin stimulation and may have a role in susceptibility to scleroderma
- 115 consecutive SSc pts and 140 well-matched healthy controls
- Subjects were genotyped for the His452Tyr substitution of the serotonin 2A receptor gene
- The associations were sought with scleroderma and its main clinical features
- Aggregation of platelet-rich plasma from His452/His452 and His452/Tyr452 healthy individuals were assessed after stimulation with adenosine diphosphate +/- serotonin
Results- The T allele of the C+1354T polymorphism was underrepresented in scleroderma pts
- Its carriage reduced the risk for SSc
- Platelets from His452/Tyr452 healthy subjects more weakly responded to serotonin stimulation vs His452/His452 individuals
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