Serotonin Gene Variant and Systemic Sclerosis
Author Information
Author(s): Lorenzo Beretta, Marta Cossu, Maurizio Marchini, Francesca Cappiello, Andrea Artoni, Giovanna Motta, Raffaella Scorza
Primary Institution: University of Milan & Fondazione IRCCS Ospedale Maggiore Policlinico
Hypothesis
The C+1354T polymorphism in the serotonin 5-HT2A receptor gene may influence susceptibility to systemic sclerosis by affecting platelet aggregation.
Conclusion
The His452Tyr substitution may influence susceptibility to systemic sclerosis by altering platelet aggregation in response to serotonin.
Supporting Evidence
- The T allele of the C+1354T polymorphism was underrepresented in scleroderma patients compared to controls.
- Carriage of the T allele reduced the risk for systemic sclerosis with an odds ratio of 0.39.
- Platelets from individuals with the His452Tyr substitution showed reduced aggregation in response to serotonin.
Takeaway
A specific change in a gene related to serotonin might help protect people from a disease called systemic sclerosis by making their platelets less sticky.
Methodology
Genotyping of 115 systemic sclerosis patients and 140 healthy controls for the His452Tyr substitution, followed by platelet aggregation assessment.
Potential Biases
Potential for false-positive results due to the exploratory nature of the study.
Limitations
The study had a relatively small sample size and lacked a replicate population.
Participant Demographics
115 systemic sclerosis patients (93.9% female, mean age 43.4 years) and 140 healthy controls.
Statistical Information
P-Value
P < 0.001
Confidence Interval
0.19 to 0.85
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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