Serotonin transporter gene polymorphisms: a case-control study

Abdo, Evandro Neves; Correia-Silva, Jeane de Fátima; Gomes, Carolina Cavaliéri; Pordeus, Isabela Almeida; Gomez, Ricardo Santiago

doi:10.1590/s0103-64402012000100012

Cited by 4 publications

(4 citation statements)

References 19 publications

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“…Importantly, the expression of most of these genes has been previously linked to cancer development and progression with a remarkable number of publications focusing on OSCC. For instance, DKK4 and SMPD3 promoters methylation seem to correlate with tumor grade in OSCC (Jabalee et al, 2020; Kheirandish et al, 2020), whereas polymorphisms of the promoter of SLC6A4 are not implicated in the OSCC development (Abdo et al, 2012). The role of ABO blood groups is more controversial.…”

Section: Discussionmentioning

confidence: 99%

Oral cancers preceded by proliferative verrucous leukoplakia exhibit distinctive molecular features

et al. 2023

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ObjectiveProliferative verrucous leukoplakia (PVL) has high rates of malignant transformation into oral squamous cell carcinoma (OSCC), but the clinical and evolutionary pattern of OSCC from PVL (PVL‐OSCC) is more favorable than that of OSCC not preceded by PVL (OSCC). Here, we aimed to explore the pathophysiologic differences between PVL‐OSCC and OSCC through transcriptomic and DNA methylation analyses.Materials and methodsIn this case‐control study, oral biopsies from 8 PVL‐OSCC and 10 OSCC patients were obtained for global sequencing using RNAseq and a genome‐wide DNA methylation analysis via the Infinium EPIC Platform (graphical abstract).ResultsOne hundred and thirty‐three differentially expressed genes (DEGs) were detected, 94 of them upregulated in OSCC. Most of these genes were previously described in cancer and associated with prognosis. The integrative analysis revealed 26 DEGs, corresponding to 37 CpGs, whose promoters were regulated by DNA methylation. Twenty‐nine of the CpGs were found as hypermethylated in PVL‐OSCC. Only 5 of the genes that were aberrantly methylated and differentially expressed were upregulated in PVL‐OSCC patients, whereas 21 were underexpressed.ConclusionsPVL‐OSCC patients presented lower expression of cancer‐related genes. Hypermethylation of the promoter region of many genes was also noticed, indicating that DNA methylation could be a regulatory mechanism.

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Section: Discussionmentioning

confidence: 99%

Oral cancers preceded by proliferative verrucous leukoplakia exhibit distinctive molecular features

et al. 2023

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“…Furthermore, the study conducted to determine the association between serotonin transporter gene polymorphism in patients of oral squamous cell carcinoma owing to an increase consumption of tobacco and alcohol in the same ethnic population failed to show any statistically signification correlation. [ 19 ]…”

Section: Discussionmentioning

confidence: 99%

Association between serotonin transporter gene polymorphism and recurrent aphthous stomatitis

Manchanda¹,

Iyengar

Patil

2016

Dent Res J

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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.

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“…A serotonina (5- (Thompson et al, 2000;Matsushita et al, 2001;Herman et al, 2003;van der Zwaluw et al, 2010), enquanto outros não encontraram essa associação (Hopfer et al, 2005;Gacek et al, 2008). Em uma amostra brasileira, Abdo et al (2012) Stephens et al, 2013). A presença do alelo polimórfico A (Asn) tem sido relacionada ao uso precoce, a sensação prazerosa e maior consumo do tabaco e também um risco maior de câncer da cavidade oral e laringe (Lips et al, 2010;Chen et al, 2011;Fowler;Kenny, 2014).…”

Section: Slc6a4 Ou 5-httunclassified

Polimorfismos genéticos e o câncer de cavidade oral e laringe: contribuição do álcool e fumo

Antonio¹

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São Paulo 2019 DEDICATÓRIA À minha mãe Deva, ao meu pai Aléssio e meu irmão Paulo, pelos vínculos genéticos e de amor que nos tornam fortes e unidos. Ao Joca, por todo amor, humor, paciência e incentivo e pelo privilégio de estar ao seu lado todos os dias. AGRADECIMENTOS A Deus sempre, por tudo o que sou, por tudo que tenho, e por ter permitido que eu chegasse até aqui. da Universidade de São Paulo (FMUSP), a quem agradeço pela orientação, pela oportunidade, por todos os ensinamentos e pelo estímulo constante para meu crescimento profissional. Inteligência marcante e Cientista exemplar. À Dra. Fernanda de Toledo Gonçalves, Pesquisadora Científica do LIM 40, por toda ajuda, pelas sugestões e discussões tão significativas em todas as etapas desta pesquisa, mas acima de tudo pela sua amizade, confiança e irmandade desde que ingressei no "Lab". A você o meu mais profundo reconhecimento e gratidão. Hospital Heliópolis -São Paulo, em especial ao Dr. Otávio Alberto Curioni pelo trabalho conjunto que desenvolvemos nesses últimos anos e a Dra. Mariana Rizzo pela coordenação na coleta do material biológico e elaboração do banco de dados. Aos pacientes do Hospital Heliópolis que aceitaram participar do estudo e foram essenciais para a sua realização. Às amigas e pesquisadoras Isabela Firigato e Mariana Rocha Silva pela inestimável ajuda durante a execução deste trabalho, por todos os incentivos e pelos divertidos momentos de convivência. Aos colegas, funcionários e ex-funcionários do Departamento de Medicina Legal, Ética Médica, Medicina Social e do Trabalho da FMUSP, em especial ao Valtair, Fátima, Liliane, Dirce, Dona Antônia, Estela e Priscila, pela adorável convivência, pelos cafezinhos e pela imprescindível colaboração demostrada todos esses anos.

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Serotonin transporter gene polymorphisms: a case-control study

Cited by 4 publications

References 19 publications

Oral cancers preceded by proliferative verrucous leukoplakia exhibit distinctive molecular features

Oral cancers preceded by proliferative verrucous leukoplakia exhibit distinctive molecular features

Association between serotonin transporter gene polymorphism and recurrent aphthous stomatitis

Polimorfismos genéticos e o câncer de cavidade oral e laringe: contribuição do álcool e fumo

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