@article {Zheng10.1212 / WNL。0000000000207418,作者={引信郑Liangliang秋和长陈和嬴政Xiaodan林和俊杰他和鑫林和齐放他和昙花林玲玲和丽丽王冯林和康杨和铸造林和彝语林和傅应宁王志强王},title ={协会4 qa-specific远D4Z4 Hypomethylation与疾病严重程度和发展Facioscapulohumeral肌肉萎缩症},elocation-id = {10.1212 / WNL。={2023}0000000000207418},年,doi = {10.1212 / WNL。出版商0000000000207418}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={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-perm首页issive单体型与疾病严重程度和进展有关facioscapulohumeral肌肉萎缩症1型(FSHD1)。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) patients with LE involvement from those without LE involvement, with AUCs (95\% CI) of 0.9684 (0.9584{\textendash}0.9785), 0.7417 (0.6903{\textendash}0.7931), and 0.6386 (0.5816{\textendash}0.6956), respectively. 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{\textemdash}adjusted for sex, age at examination, D4Z4 RU, and 4qA/B haplotype{\textemdash}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{\textendash}7.930), 3.356 (1.458{\textendash}7.727), and 2.956 (1.245{\textendash}7.020), respectively.Conclusion: 4q35 distal D4Z4 hypomethylation is correlated with disease severity and progression to lower extremity involvement.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/early/2023/05/24/WNL.0000000000207418}, eprint = {//www.ez-admanager.com/content/early/2023/05/24/WNL.0000000000207418.full.pdf}, journal = {Neurology} }