IMB Seminar Series – Dr Sonia Davila – ‘Genetic variation in the complement factor h-related protein 3 gene controls factor H blood levels and determines susceptibility to meningococcal disease’

Event Details

Date:

Friday, 25 August 2017

Time:

12:30 pm - 1:30 pm

Room:

Queensland Bioscience Precinct Auditorium - Building 80, The University of Queensland

UQ Location:

Queensland Bioscience Precinct (St Lucia)

URL:

http://events.imb.uq.edu.au

Event category(s):

Full Description:: “Genetic variants within complement factor H (CFH) and the five complement factor H-related (CFHR) genes have been associated with susceptibility to a range of human diseases. Factor H (FH) acts as a negative regulator of the alternative complement activation pathway and its circulating plasma levels, mainly secreted by the liver, have been associated with susceptibility to infectious and autoimmune diseases. We have characterized the extremely complex CFH-CFHR1-5 gene interval and fine-mapped the association signal of susceptibility to meningococcal disease. Functional studies demonstrated that the lead SNP in CFHR3 lies in a liver-specific regulatory region that has been shown to loop and interact with CFH at the genomic level. Our data demonstrate that FH is the complement protein associated with meningococcal disease susceptibility and that its expression levels are controlled through a cis-regulatory element located in intron 1 of CFHR3 providing a molecular mechanism relevant to complement dysregulation related diseases”