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Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Abstract：

:Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Pang SY,Hsu JS,Teo KC,Li Y,Kung MHW,Cheah KSE,Chan D,Cheung KMC,Li M,Sham PC,Ho SL

doi

10.1016/j.neurobiolaging.2017.06.007

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

238.e9-238.e15

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(17)30203-8

journal_volume

58

pub_type

杂志文章

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