Association between serotonin transporter gene polymorphism and recurrent aphthous stomatitis

Aastha Manchanda, Asha R. Iyengar, Asha R. Iyengar, Seema Patil, Seema Patil


Background: Anxiety-related traits have been attributed to sequence variability in the genes coding
for serotonin transmission in the brain. Two alleles, termed long (L) and short (S) differing by 44 base
pairs, are found in a polymorphism identified in the promoter region of serotonin transporter gene.
The presence of the short allele and SS and LS genotypes is found to be associated with the reduced
expression of this gene decreasing the uptake of serotonin in the brain leading to various anxiety-related
traits. Recurrent aphthous stomatitis (RAS) is an oral mucosal disease with varied etiology including
the presence of stress, anxiety, and genetic influences. The present study aimed to determine this
serotonin transporter gene polymorphism in patients with RAS and compare it with normal individuals.
Materials and Methods: This study included 20 subjects with various forms of RAS and 20 normal
healthy age- and gender-matched individuals. Desquamated oral mucosal cells were collected for
DNA extraction and subjected to polymerase chain reaction for studying insertion/deletion in
the 5-HTT gene-linked polymorphic region. Cross tabulations followed by Chi-square tests were
performed to compare the significance of findings, P < 0.05 was considered statistically significant.
Results: The LS genotype was the most common genotype found in the subjects with aphthous
stomatitis (60%) and controls (40%). The total percentage of LS and SS genotypes and the frequency
of S allele were found to be higher in the subjects with aphthous stomatitis as compared to the
control group although a statistically significant correlation could not be established, P = 0.144
and 0.371, respectively.
Conclusion: Within the limitations of this study, occurrence of RAS was not found to be associated
with polymorphic promoter region in serotonin transporter gene.
Key Words: Recurrent aphthous stomatitis, serotonin (5-HT), serotonin transporter
(5-HTT), serotonin transporter polymorphism (5-HTTLPR)

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