Genetics of membranous nephropathy
The thesis was published by
Gupta, Sanjana,
in June 2022,
UCL (University College London).
Abstract:
Autoimmune membranous nephropathy (AMN) is a rare kidney disease. The genetics of AMN have been partially elucidated and confirmed the role of phospholipase A2 receptor-1 (PLA2R1) and HLA. The functional effect of the genetic variations is not fully understood. This thesis investigates these unexplored genetic aspects utilising a range of methodologies and unique cohorts.
Analysing genomic sequencing data of PLA2R1 in 335 AMN patients identified 109 strongly associated variants; 9 with a very strong association, p-value
The full thesis can be downloaded at :
https://discovery.ucl.ac.uk/id/eprint/10150543/1/Gupta_10150543_Thesis_redacted.pdf
https://discovery.ucl.ac.uk/id/eprint/10150543/1/Gupta_10150543_Thesis_redacted.pdf