Abstract：
ALS shows complex genetic inheritance patterns. In about 5% to 10% of cases, there is a family history of ALS or a related condition such as frontotemporal dementia in a first or second degree relative, and for about 80% of such people a pathogenic gene variant can be identified. Such variants are also seen in people with no family history because of factor influencing the expression of genes, such as age. Genetic susceptibility factors also contribute to risk, and the heritability of ALS is between 40% and 60%. The genetic variants influencing ALS risk include single base changes, repeat expansions, copy number variants, and others. Here we review what is known of the genetic landscape and architecture of ALS.
摘要：
ALS表现出复杂的遗传遗传模式。在大约5%到10%的病例中，有ALS家族史或相关疾病，如额颞叶痴呆在一级或二级亲属，对于大约80％的人，可以鉴定出致病基因变体。由于影响基因表达的因素，在没有家族史的人群中也可以看到这种变异，比如年龄。遗传易感因素也会导致风险，ALS的遗传力在40%到60%之间。影响ALS风险的遗传变异包括单碱基变化，重复展开,拷贝数变体，和其他人。在这里，我们回顾了ALS的遗传景观和结构。
