C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.

Andreia DiasDiana SantosTeresa CoelhoMiguel Alves-FerreiraJorge SequeirosIsabel AlonsoAlda SousaCarolina Lemos

Published in: Annals of clinical and translational neurology (2019)

C1QA was associated with later onset, whereas C1QC may have a double role: variants may confer earlier or later AO. As found in a study in Cyprus, we confirmed the role of complement C1Q genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
oxidative stress
prognostic factors
copy number
genome wide
patient reported outcomes