Mean ages at onset and CAG repeat numbers of the expanded huntingtin allele in different European populations.

Populations with ≥100 examined HD patients are shown; n number of investigated HD patients.AAO, age at onset, CAGexp, expanded CAG repeat number in huntingtin, SD standard deviation, V major allele valine at amino acid position 471 (V471), A rare allele alanine at amino acid position 471 (A471).at test: Comparing the mean AAO of the VV and VA genotypes in the different populations, only Italian patients with genotype VV differ significantly from patients with heterozygous VA genotype (P = 0.0348).bt-test: Italian patients show the oldest mean AAO, which is significantly older than the mean AAO of patients from the other presented European countries together (Italy vs other countries: P本研究展示了纳入≥100例经确诊的亨廷顿病（Huntington's Disease, HD）患者的队列；n为被调查的HD患者例数。其中，AAO指发病年龄（age at onset），CAGexp指亨廷顿基因中扩增的CAG重复序列数，SD为标准差（standard deviation）；V代表471位氨基酸为缬氨酸（valine, V471）的主要等位基因，A代表471位氨基酸为丙氨酸（alanine, A471）的罕见等位基因。a t检验：对比不同队列中VV基因型与VA基因型患者的平均发病年龄，结果显示仅意大利籍VV基因型患者与杂合VA基因型患者存在显著统计学差异（P=0.0348）。b t检验：意大利患者的平均发病年龄最高，且显著高于本次展示的其他所有欧洲国家患者的平均发病年龄（意大利 vs 其他国家：P