Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy

Marieke J H Coenen, Julia M Hofstra, Hanna Debiec, Horia C Stanescu, Alan J Medlar, Bénédicte Stengel, Anne Boland-Augé, Johanne M Groothuismink, Detlef Bockenhauer, Steve H Powis, Peter W Mathieson, Paul E Brenchley, Robert Kleta, Jack F M Wetzels, Pierre Ronco

Research output: Contribution to journalArticle (Academic Journal)peer-review

84 Citations (Scopus)

Abstract

The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic membranous nephropathy (iMN). Our recent genome-wide association study showed that genetic variants in an HLA-DQA1 and phospholipase A2 receptor (PLA2R1) allele associate most significantly with biopsy-proven iMN, suggesting that rare genetic variants within the coding region of the PLA2R1 gene may contribute to antibody formation. Here, we sequenced PLA2R1 in a cohort of 95 white patients with biopsy-proven iMN and assessed all 30 exons of PLA2R1, including canonical (GT-AG) splice sites, by Sanger sequencing. Sixty patients had anti-PLA2R1 in serum or detectable PLA2R1 antigen in kidney tissue. We identified 18 sequence variants, comprising 2 not previously described, 7 reported as rare variants (
Original languageEnglish
Pages (from-to)677-683
Number of pages7
JournalJournal of the American Society of Nephrology
Volume24
Issue number4
DOIs
Publication statusPublished - 29 Mar 2013

Keywords

  • Polymorphism, Single Nucleotide
  • Humans
  • Adult
  • Glomerulonephritis, Membranous
  • Aged
  • Receptors, Phospholipase A2
  • Middle Aged
  • Genetic Predisposition to Disease
  • Sequence Analysis, DNA
  • Male
  • Genomic Structural Variation
  • Female

Fingerprint

Dive into the research topics of 'Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy'. Together they form a unique fingerprint.

Cite this