Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Adam P LevineMelanie M Y ChanOmid Sadeghi-AlavijehEdwin K S WongH Terence CookSofie AshfordKeren CarssMartin T ChristianMatthew HallClaire Louise HarrisPaul McAlindenKevin J MarchbankStephen D MarksHeather MaxwellKaryn MegyChristopher J PenkettMonika MozereKathleen E StirrupsSalih TunaJulie WesselsDeborah Whitehornnull nullnull nullSally A JohnsonDaniel P GalePublished in: Journal of the American Society of Nephrology : JASN (2020)
We found that HLA type, but not rare complement gene variation, is associated with primary membranoproliferative GN. These findings challenge the paradigm of complement gene mutations typically causing primary membranoproliferative GN and implicate an underlying autoimmune mechanism in most cases.