Centro Interdisciplinar de Química E Bioloxía - CICA. Departamento de Psicología, Universidade da Coruña, Grupo DICOMOSA, Campus Elviña S/N, 15071, A Coruña, Spain.
Instituto de Investigación Biomédica de A Coruña (INIBIC), 15071, Oza, A Coruña, Spain.
Sci Rep. 2023 Dec 7;13(1):21609. doi: 10.1038/s41598-023-48782-2.
Gender identity refers to the consciousness of being a man, a woman or other condition. Although it is generally congruent with the sex assigned at birth, for some people it is not. If the incongruity is distressing, it is defined as gender dysphoria (GD). Here, we measured whole-genome DNA methylation by the Illumina © Infinium Human Methylation 850k array and reported its correlation with cortical thickness (CTh) in 22 transgender men (TM) experiencing GD versus 25 cisgender men (CM) and 28 cisgender women (CW). With respect to the methylation analysis, TM vs. CW showed significant differences in 35 CpGs, while 2155 CpGs were found when TM vs. CM were compared. With respect to correlation analysis, TM showed differences in methylation of CBLL1 and DLG1 genes that correlated with global and left hemisphere CTh. Both genes were hypomethylated in TM compared to the cisgender groups. Early onset TM showed a positive correlation between CBLL1 and several cortical regions in the frontal (left caudal middle frontal), temporal (right inferior temporal, left fusiform) and parietal cortices (left supramarginal and right paracentral). This is the first study relating CBLL1 methylation with CTh in transgender persons and supports a neurodevelopmental hypothesis of gender identity.
性别认同是指一个人自我认知为男性、女性或其他性别状态。尽管它通常与出生时分配的性别一致，但对某些人来说并非如此。如果这种不一致令人痛苦，则定义为性别焦虑症（GD）。在这里，我们通过 Illumina©Infinium Human Methylation 850k 阵列测量了全基因组 DNA 甲基化，并报告了其与 22 名经历 GD 的跨性别男性（TM）与 25 名顺性别男性（CM）和 28 名顺性别女性（CW）的皮质厚度（CTh）之间的相关性。关于甲基化分析，TM 与 CW 相比，在 35 个 CpG 中存在显著差异，而在 TM 与 CM 相比时，发现了 2155 个 CpG。关于相关性分析，TM 显示 CBLL1 和 DLG1 基因的甲基化存在差异，与全球和左半球 CTh 相关。与顺性别组相比，TM 中这两个基因的甲基化程度较低。早期发病的 TM 显示 CBLL1 与额皮质（左额中回下部）、颞皮质（右颞下回、左梭状回）和顶叶皮质（左缘上回和右旁中央回）的几个皮质区域之间存在正相关。这是第一项将 CBLL1 甲基化与跨性别者 CTh 相关联的研究，支持了性别认同的神经发育假说。
