The complement C7 variant rs3792646 is associated with amyotrophic lateral sclerosis in a Han Chinese population

The complement system has been shown to have a critical pathogenetic role in amyotrophic lateral sclerosis (ALS). Recently a C7 variant in rs3792646 was linked to neurodegenerative diseases in a Chinese population. We used whole exome sequencing to evaluate the role of C7 (rs3792646) in ALS in a Chinese cohort with 1970 individuals. The minor allele frequency in cases was 0.032 while 0.016 in controls, suggesting this variant was associated with ALS. Further analyses showed the prevalence of the variant was significantly higher in Chinese than Caucasian, suggesting its importance in Han individuals. rs3792646-C was significantly associated with a lower onset age in both genders, and a survival analysis revealed a significant relationship between the variant and decreased survival. There was no significant association between the variant and other common ALS-related variants. Our study further elucidated the relationship between the complement system and ALS from a genetic perspective. In addition, the results suggested C7 (rs3792646) could be a potential predictive factor for poor prognosis in ALS.