Gámez Sara, Cobo Jesus, Fernández-Lafitte Meritxell, Coronas Ramón, Parra Isabel, Oliva Joan Carles, Àlvarez Aida, Esteba-Castillo Susanna, Giménez-Palop Olga, Corripio Raquel, Palao Diego J, Caixàs Assumpta
Mental Health Department, Corporació Sanitària Parc Taulí-Universitat Autònoma de Barcelona-CIBERSAM, 08202 Sabadell, Spain.
Department of Psychiatry and Forensic Medicine, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
J Clin Med. 2023 Feb 1;12(3):1155. doi: 10.3390/jcm12031155.
Prader-Willi syndrome (PWS) is a genetic disorder produced by a lack of expression of paternally derived genes in the 15q11-13 region. Research has generally focused on its genetic and behavioral expression, but only a few studies have examined epigenetic influences. Prenatal testosterone or the maternal testosterone-to-estradiol ratio (MaTtEr) has been suggested to play an important role in the development of the 'social brain' during pregnancy. Some studies propose the 2D:4D digit ratio of the hand as an indirect MaTtEr measure. The relationship between social performance and MaTtEr has been studied in other neurodevelopmental conditions such as Autism Spectrum Disorder (ASD), but to our best knowledge, it has never been studied in PWS. Therefore, our study aims to clarify the possible existence of a relationship between social performance-as measured using the Social Responsiveness Scale (SRS)-and MaTtEr levels using the 2D:4D ratio. We found that, as a group, PWS individuals have shorter index and ring fingers than the control group, but no significant difference in the 2D:4D ratios. The 2D:4D ratio showed a correlation only with Restricted Interests and Repetitive Behavior Subscale, where a positive correlation only for male individuals with PWS was found. Considering only PWS with previous GH treatment during childhood/adolescence (PWS-GH), index and ring fingers did not show differences in length with the control group, but the 2D:4D ratio was significantly higher in the right or dominant hand compared to controls.
普拉德-威利综合征(PWS)是一种由于15号染色体长臂1区1带至1区3带(15q11-13)父源基因缺乏表达而产生的遗传性疾病。研究通常聚焦于其基因和行为表现,但仅有少数研究探讨了表观遗传学影响。产前睾酮或母体睾酮与雌二醇的比值(MaTtEr)被认为在孕期“社会脑”的发育中起重要作用。一些研究提出用手的2D:4D指长比作为MaTtEr的间接测量指标。社会行为表现与MaTtEr之间的关系已在其他神经发育障碍如自闭症谱系障碍(ASD)中得到研究,但据我们所知,从未在PWS中进行过研究。因此,我们的研究旨在明确使用社会反应量表(SRS)测量的社会行为表现与用2D:4D指长比表示的MaTtEr水平之间是否可能存在关联。我们发现,总体而言,PWS个体的食指和无名指比对照组短,但2D:4D指长比无显著差异。2D:4D指长比仅与受限兴趣和重复行为分量表相关,且仅在患有PWS的男性个体中发现正相关。仅考虑在儿童期/青少年期接受过生长激素(GH)治疗的PWS个体(PWS-GH),其食指和无名指长度与对照组无差异,但与对照组相比,右手或优势手的2D:4D指长比显著更高。