TY -的T1 - 4协会qa-specific远D4Z4 Hypomethylation与疾病严重程度和发展Facioscapulohumeral肌肉萎缩症JF -神经学乔-神经- 10.1212 / WNL。半岛投注体育官网0000000000207418 SP - 10.1212 / WNL。0000000000207418 AU -引信郑盟Liangliang邱AU -长陈盟嬴政盟Xiaodan林盟——俊杰他盟鑫林盟-齐放他盟昙花林盟-玲玲盟丽丽王盟-冯林盟-杨康盟铸造林盟-林易盟应福王盟-宁王盟志强Y1 - 2023/05/24 UR - //www.ebmtp.com/content/early/2023/05/24/WNL.0000000000207418.abstract N2 -目的:检查是否区域甲基化水平在最末端D4Z4重复单位(俄文)4 qa-permissive单体型与疾病严重程度和进展有关facioscapulohumeral肌肉萎缩症1型(FSHD1)。半岛投注体育官网方法:这是一个21年,回顾和观察性队列研究在中国福建Neuromedical中心(FNMC)。甲基化水平的最末端D4Z4俄文,包括10个论文认定,被重亚硫酸盐测序评估在所有参与者。FSHD1患者基于甲基化比例四分位数分层分为4组,包括LM1(低甲基化),LM2中间甲基化(低),LM3(中间高甲基化)和甲基化水平最高(HM)。患者运动功能的评价集中在下肢(LE)进展在基线和跟进。FSHD临床评分(CS)、age-corrected临床严重程度量表(ACSS)和改良Rankin规模被用来评估运动机能。结果:10论文认定的甲基化水平显著降低在所有823个基因证实FSHD1病人比341年健康对照组(高碳钢)。CpG6甲基化水平可以区分:1)从高碳钢FSHD1病人;2)从无症状/影响患者症状;3)LE患者参与从那些没有参与,与auc (95% CI)为0.9684(0.9584 - -0.9785),0.7417(0.6903 - -0.7931),和0.6386 (0.5816 - -0.6956)。 CpG6 methylation levels were negatively correlated with both CS (r = -0.392) and ACSS (r = -0.432), and positively correlated with onset age of first-ever muscle weakness (r = 0.297). For the LM1, LM2, LM3, and HM groups, the respective proportions of LE involvement were 52.9%, 44.2%, 36.9%, and 23.4%; and onset ages of LE involvement were 20, 26.5, 25, and 26.5 years. Cox regression analysis—adjusted for sex, age at examination, D4Z4 RU, and 4qA/B haplotype—showed that the LM1, LM2, and LM3 groups (i.e., groups with lower methylation levels) had a higher risk for independent ambulation loss, with HRs (95% CI) of 3.523 (1.565–7.930), 3.356 (1.458–7.727), and 2.956 (1.245–7.020), respectively.Conclusion: 4q35 distal D4Z4 hypomethylation is correlated with disease severity and progression to lower extremity involvement. ER -