Análisis del perfil de metilación CpG del ADN genómico de una población con incongruencia de género
| Autor: | Ramirez Olivero, Karla del Valle |
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| Přispěvatelé: | Pasaro, Eduardo, Fernández, Rosa, Fernández, Rosa (Titora) |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | RUC. Repositorio da Universidade da Coruña instname |
| Popis: | Programa Oficial de Doutoramento en Desenvolvemento Psicolóxico, Aprendizaxe e Saúde. 5034V01 [Abstract] Gender incongruence in the ICD-11 (International Classification of Diseases-11) is characterized by “a persistent incongruence between the individual's experience of gender and the sex assigned at birth”. The origin of gender incongruence is complex and multifactorial. Aim: The first part of the research focused on the prospective CpG (cytosine-phosphate-guanine) analysis of the fragment III (RIII) of the estrogen receptor α promoter, in a population with gender incongruence before vs after six months of gender affirming hormone treatment (GAHT). The second part focused on the prospective global CpG methylation using the Illumina© Infinium Human Methylation 850k BeadChip. Material and Methods: The analysis of the CpG profile of the RIII of the estrogen receptor α promoter was carried out using bisulfite genomic sequencing in 20 cis gender and 20 trans gender people before vs after six months of GAHT. DNAs were bisulfited, amplified, cloned, and sequenced. The statistical analysis was carried out with the QUMA (QUantification tool for Methylation Analysis) program. The global CpG analysis was performed on blood from 16 trans gender people before vs after GAHT, in comparison to 16 cis gender people using the Illumina© Infinium Human Methylation 850k BeadChip, after bisulfite conversion. Global methylation profiles were analyzed with the Partek® Genomics Suite® program by a 3-way ANOVA test comparing populations by group, sex and treatment. An enrichment analysis was performed with the Partek® Pathway® program and the WebGestalt. Results: The first part of this study showed (i) that in cis and trans populations, men and women had different RIII methylation patterns; (ii) that before the GAHT, both transgender groups showed a characteristic RIII methylation profile, which did not match any of the cisgender groups; (iii) that GAHT modified the RIII methylation pattern towards more similar methylation profiles to the corresponding gender. The main result of the global methylation study is that the cis and trans populations differ in the degree of methylation before GAHT treatment. In the male population (according to the assignment at birth), 22 CpG islands were found that passed the statistic criteria (FDR p |
| Databáze: | OpenAIRE |
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