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

doi:10.1681/ASN.2012070730

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

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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 language	English
Pages (from-to)	677-683
Number of pages	7
Journal	Journal of the American Society of Nephrology
Volume	24
Issue number	4
DOIs	https://doi.org/10.1681/ASN.2012070730
Publication status	Published - 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

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Coenen, M. J. H., Hofstra, J. M., Debiec, H., Stanescu, H. C., Medlar, A. J., Stengel, B., Boland-Augé, A., Groothuismink, J. M., Bockenhauer, D., Powis, S. H., Mathieson, P. W., Brenchley, P. E., Kleta, R., Wetzels, J. F. M., & Ronco, P. (2013). Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy. Journal of the American Society of Nephrology, 24(4), 677-683. https://doi.org/10.1681/ASN.2012070730

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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 (",

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",

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doi = "10.1681/ASN.2012070730",

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Coenen, MJH, Hofstra, JM, Debiec, H, Stanescu, HC, Medlar, AJ, Stengel, B, Boland-Augé, A, Groothuismink, JM, Bockenhauer, D, Powis, SH, Mathieson, PW, Brenchley, PE, Kleta, R, Wetzels, JFM & Ronco, P 2013, 'Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy', Journal of the American Society of Nephrology, vol. 24, no. 4, pp. 677-683. https://doi.org/10.1681/ASN.2012070730

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AU - Coenen, Marieke J H

AU - Hofstra, Julia M

AU - Debiec, Hanna

AU - Stanescu, Horia C

AU - Medlar, Alan J

AU - Stengel, Bénédicte

AU - Boland-Augé, Anne

AU - Groothuismink, Johanne M

AU - Bockenhauer, Detlef

AU - Powis, Steve H

AU - Mathieson, Peter W

AU - Brenchley, Paul E

AU - Kleta, Robert

AU - Wetzels, Jack F M

AU - Ronco, Pierre

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N2 - 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 (

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KW - Polymorphism, Single Nucleotide

KW - Humans

KW - Adult

KW - Glomerulonephritis, Membranous

KW - Aged

KW - Receptors, Phospholipase A2

KW - Middle Aged

KW - Genetic Predisposition to Disease

KW - Sequence Analysis, DNA

KW - Male

KW - Genomic Structural Variation

KW - Female

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DO - 10.1681/ASN.2012070730

M3 - Article (Academic Journal)

C2 - 23431073

SN - 1046-6673

VL - 24

SP - 677

EP - 683

JO - Journal of the American Society of Nephrology

JF - Journal of the American Society of Nephrology

IS - 4

ER -

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

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IMMUNOSUPPRESSION FOR PROGRESSIVE MEMBRANOUS NEPHROPATHY

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

Abstract

Keywords

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IMMUNOSUPPRESSION FOR PROGRESSIVE MEMBRANOUS NEPHROPATHY

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