A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy.

Sanjana Gupta,Mallory Lorraine Downie,Chris Cheshire,Stephanie Dufek-Kamperis,Adam Paul Levine,Paul Brenchley,Elion Hoxha,Rolf Stahl,Neil Ashman,Ruth Jennifer Pepper, Sean Mason,Jill Norman,Detlef Bockenhauer,Horia Constantin Stanescu,Robert Kleta,Daniel Philip Gale

Glomerular diseases（2023）

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Abstract

We demonstrate that the genetic risk factors for PLA2R1- and THSD7A-antibody-associated MN are different. A higher GRS is associated with younger age of onset of disease. Further, a proportion of antibody-negative MN cases have an elevated GRS similar to PLA2R1-positive disease. This suggests that in some individuals with negative serology the disease is driven by autoimmunity against PLA2R1.

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Key words

Autoantibody,Genetic risk score,Membranous nephropathy,Phospholipase A2 receptor 1,Thrombospondin type-1 domain containing 7A

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