Piras Ignazio Stefano, Costa Anna, Tirindelli Maria Cristina, Stoccoro Andrea, Huentelman Matthew J, Sacco Roberto, Coppedè Fabio, Lintas Carla
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA.
Service for Neurodevelopmental Disorders, University Campus Bio-Medico, Rome, Italy.
Epigenomics. 2020 May;12(10):813-823. doi: 10.2217/epi-2019-0356. Epub 2020 Jun 2.
To assess promoter methylation levels, gene expression levels and 677C>T/1298A>C genotype and allele frequencies of the gene in 45 mothers of attention-deficit/hyperactivity disorder affected child/children (ADHDM) and compare it with age matched healthy control mothers (HCM). : High resolution melting analysis, quantitative real time PCR and PCR-RFLP were performed to assess methylation, gene expression and genotyping, respectively. Significance between ADHDM and HCM was assessed by linear (methylation and gene expression) and logistic regression (genotypes). gene expression levels were significantly higher in the ADHDM compared with the HCM group (adj-p < 7.7E-04). No differences in promoter methylation level and 677C>T/1298A>C genotype frequencies were detected between ADHDM and HCM. We observed increased expression levels not resulting from promoter methylation changes in ADHDM respect to HMC, potentially contributing to the ADHD condition in their children and deserving further investigation.
为评估45名注意缺陷多动障碍患儿母亲(ADHDM)中该基因的启动子甲基化水平、基因表达水平以及677C>T/1298A>C基因型和等位基因频率,并将其与年龄匹配的健康对照母亲(HCM)进行比较。分别采用高分辨率熔解分析、定量实时PCR和PCR-RFLP来评估甲基化、基因表达和基因分型。通过线性回归(甲基化和基因表达)和逻辑回归(基因型)评估ADHDM和HCM之间的差异。与HCM组相比,ADHDM组的基因表达水平显著更高(校正P<7.7E-04)。在ADHDM和HCM之间未检测到启动子甲基化水平和677C>T/1298A>C基因型频率的差异。我们观察到,与HMC相比,ADHDM中基因表达水平升高并非由启动子甲基化变化引起,这可能导致其子女患ADHD,值得进一步研究。