FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

M Fanciulli; PJ Norsworthy; E Petretto; R Dong; Lorraine Harper; Lavanya Kamesh; Joanne King; Stephen Gough; A de Smith; AI Blakemore; P Froguel; CJ Owen; SH Pearce; L Teixeira; L Guillevin; DS Graham; CD Pusey; HT Cook; TJ Vyse; TJ Aitman

doi:10.1038/ng2046

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

M Fanciulli, PJ Norsworthy, E Petretto, R Dong, Lorraine Harper, Lavanya Kamesh, Joanne King, Stephen Gough, A de Smith, AI Blakemore, P Froguel, CJ Owen, SH Pearce, L Teixeira, L Guillevin, DS Graham, CD Pusey, HT Cook, TJ Vyse, TJ Aitman

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Abstract

Naturally occurring variation in gene copy number is increasingly recognized as a heritable source of susceptibility to genetically complex diseases. Here we report strong association between FCGR3B copy number and risk of systemic lupus erythematosus (P = 2.7 x 10(-8)), microscopic polyangiitis (P = 2.9 x 10(-4)) and Wegener's granulomatosis in two independent cohorts from the UK (P = 3 x 10(-3)) and France (P = 1.1 x 10(-4)). We did not observe this association in the organ-specific Graves' disease or Addison's disease. Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity.

Original language	English
Pages (from-to)	721-723
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	6
Early online date	21 May 2007
DOIs	https://doi.org/10.1038/ng2046
Publication status	Published - 1 Jun 2007

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Fanciulli, M., Norsworthy, PJ., Petretto, E., Dong, R., Harper, L., Kamesh, L., King, J., Gough, S., de Smith, A., Blakemore, AI., Froguel, P., Owen, CJ., Pearce, SH., Teixeira, L., Guillevin, L., Graham, DS., Pusey, CD., Cook, HT., Vyse, TJ., & Aitman, TJ. (2007). FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nature Genetics, 39(6), 721-723. https://doi.org/10.1038/ng2046

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title = "FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity",

abstract = "Naturally occurring variation in gene copy number is increasingly recognized as a heritable source of susceptibility to genetically complex diseases. Here we report strong association between FCGR3B copy number and risk of systemic lupus erythematosus (P = 2.7 x 10(-8)), microscopic polyangiitis (P = 2.9 x 10(-4)) and Wegener's granulomatosis in two independent cohorts from the UK (P = 3 x 10(-3)) and France (P = 1.1 x 10(-4)). We did not observe this association in the organ-specific Graves' disease or Addison's disease. Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity.",

author = "M Fanciulli and PJ Norsworthy and E Petretto and R Dong and Lorraine Harper and Lavanya Kamesh and Joanne King and Stephen Gough and {de Smith}, A and AI Blakemore and P Froguel and CJ Owen and SH Pearce and L Teixeira and L Guillevin and DS Graham and CD Pusey and HT Cook and TJ Vyse and TJ Aitman",

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Fanciulli, M, Norsworthy, PJ, Petretto, E, Dong, R, Harper, L, Kamesh, L, King, J, Gough, S, de Smith, A, Blakemore, AI, Froguel, P, Owen, CJ, Pearce, SH, Teixeira, L, Guillevin, L, Graham, DS, Pusey, CD, Cook, HT, Vyse, TJ & Aitman, TJ 2007, 'FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity', Nature Genetics, vol. 39, no. 6, pp. 721-723. https://doi.org/10.1038/ng2046

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T1 - FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

AU - Fanciulli, M

AU - Norsworthy, PJ

AU - Petretto, E

AU - Dong, R

AU - Harper, Lorraine

AU - Kamesh, Lavanya

AU - King, Joanne

AU - Gough, Stephen

AU - de Smith, A

AU - Blakemore, AI

AU - Froguel, P

AU - Owen, CJ

AU - Pearce, SH

AU - Teixeira, L

AU - Guillevin, L

AU - Graham, DS

AU - Pusey, CD

AU - Cook, HT

AU - Vyse, TJ

AU - Aitman, TJ

PY - 2007/6/1

Y1 - 2007/6/1

N2 - Naturally occurring variation in gene copy number is increasingly recognized as a heritable source of susceptibility to genetically complex diseases. Here we report strong association between FCGR3B copy number and risk of systemic lupus erythematosus (P = 2.7 x 10(-8)), microscopic polyangiitis (P = 2.9 x 10(-4)) and Wegener's granulomatosis in two independent cohorts from the UK (P = 3 x 10(-3)) and France (P = 1.1 x 10(-4)). We did not observe this association in the organ-specific Graves' disease or Addison's disease. Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity.

AB - Naturally occurring variation in gene copy number is increasingly recognized as a heritable source of susceptibility to genetically complex diseases. Here we report strong association between FCGR3B copy number and risk of systemic lupus erythematosus (P = 2.7 x 10(-8)), microscopic polyangiitis (P = 2.9 x 10(-4)) and Wegener's granulomatosis in two independent cohorts from the UK (P = 3 x 10(-3)) and France (P = 1.1 x 10(-4)). We did not observe this association in the organ-specific Graves' disease or Addison's disease. Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity.

U2 - 10.1038/ng2046

DO - 10.1038/ng2046

M3 - Article

C2 - 17529978

SN - 1546-1718

VL - 39

SP - 721

EP - 723

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

Abstract

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