ABIN1 dysfunction as a genetic basis for lupus nephritis

Dawn J. Caster, Erik A. Korte, Sambit K. Nanda, Kenneth R. McLeish, Rebecca K. Oliver, Rachel T. G'Sell, Ryan M. Sheehan, Darrell W. Freeman, Susan C. Coventry, Jennifer A. Kelly, Joel M. Guthridge, Judith A. James, Kathy L. Moser Sivils, Marta E. Alarcon-Riquelme, R. Hal Scofield, Indra Adrianto, Patrick M. Gaffney, Anne M. Stevens, Barry I. Freedman, Carl D. Langefeld & 25 otros Betty P. Tsao, Bernardo A Pons-Estel, Chaim O. Jacob, Diane L. Kamen, Gary S. Gilkeson, Elizabeth E. Brown, Graciela S Alarcon, Jeffrey C. Edberg, Robert P. Kimberly, Javier Martin, Joan T. Merrill, John B. Harley, Kenneth M. Kaufman, John D. Reveille, Juan-Manuel Anaya, Lindsey A. Criswell, Luis M Vila, Michelle Petri, Rosalind Ramsey-Goldman, Sang Cheol Bae, Susan A. Boackle, Timothy J. Vyse, Timothy B. Niewold, Philip Cohen, David W Powell

Resultado de la investigación: Contribución a RevistaArtículo

42 Citas (Scopus)

Resumen

The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-κB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-κB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-κB and mitogen-activated protein kinase activity.

Idioma originalEnglish (US)
Páginas (desde-hasta)1743-54
Número de páginas12
PublicaciónJournal of the American Society of Nephrology : JASN
Volumen24
N.º11
DOI
EstadoPublished - nov 2013

Huella dactilar

Lupus Nephritis
Systemic Lupus Erythematosus
Nephritis
African Americans
Mitogen-Activated Protein Kinases
Toll-Like Receptors
Hispanic Americans
Genes
Autoimmune Diseases
Single Nucleotide Polymorphism

Citar esto

Caster, D. J., Korte, E. A., Nanda, S. K., McLeish, K. R., Oliver, R. K., G'Sell, R. T., ... Powell, D. W. (2013). ABIN1 dysfunction as a genetic basis for lupus nephritis. Journal of the American Society of Nephrology : JASN, 24(11), 1743-54. https://doi.org/10.1681/ASN.2013020148
Caster, Dawn J. ; Korte, Erik A. ; Nanda, Sambit K. ; McLeish, Kenneth R. ; Oliver, Rebecca K. ; G'Sell, Rachel T. ; Sheehan, Ryan M. ; Freeman, Darrell W. ; Coventry, Susan C. ; Kelly, Jennifer A. ; Guthridge, Joel M. ; James, Judith A. ; Moser Sivils, Kathy L. ; Alarcon-Riquelme, Marta E. ; Scofield, R. Hal ; Adrianto, Indra ; Gaffney, Patrick M. ; Stevens, Anne M. ; Freedman, Barry I. ; Langefeld, Carl D. ; Tsao, Betty P. ; Pons-Estel, Bernardo A ; Jacob, Chaim O. ; Kamen, Diane L. ; Gilkeson, Gary S. ; Brown, Elizabeth E. ; Alarcon, Graciela S ; Edberg, Jeffrey C. ; Kimberly, Robert P. ; Martin, Javier ; Merrill, Joan T. ; Harley, John B. ; Kaufman, Kenneth M. ; Reveille, John D. ; Anaya, Juan-Manuel ; Criswell, Lindsey A. ; Vila, Luis M ; Petri, Michelle ; Ramsey-Goldman, Rosalind ; Bae, Sang Cheol ; Boackle, Susan A. ; Vyse, Timothy J. ; Niewold, Timothy B. ; Cohen, Philip ; Powell, David W. / ABIN1 dysfunction as a genetic basis for lupus nephritis. En: Journal of the American Society of Nephrology : JASN. 2013 ; Vol. 24, N.º 11. pp. 1743-54.
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title = "ABIN1 dysfunction as a genetic basis for lupus nephritis",
abstract = "The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-κB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-κB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-κB and mitogen-activated protein kinase activity.",
author = "Caster, {Dawn J.} and Korte, {Erik A.} and Nanda, {Sambit K.} and McLeish, {Kenneth R.} and Oliver, {Rebecca K.} and G'Sell, {Rachel T.} and Sheehan, {Ryan M.} and Freeman, {Darrell W.} and Coventry, {Susan C.} and Kelly, {Jennifer A.} and Guthridge, {Joel M.} and James, {Judith A.} and {Moser Sivils}, {Kathy L.} and Alarcon-Riquelme, {Marta E.} and Scofield, {R. Hal} and Indra Adrianto and Gaffney, {Patrick M.} and Stevens, {Anne M.} and Freedman, {Barry I.} and Langefeld, {Carl D.} and Tsao, {Betty P.} and Pons-Estel, {Bernardo A} and Jacob, {Chaim O.} and Kamen, {Diane L.} and Gilkeson, {Gary S.} and Brown, {Elizabeth E.} and Alarcon, {Graciela S} and Edberg, {Jeffrey C.} and Kimberly, {Robert P.} and Javier Martin and Merrill, {Joan T.} and Harley, {John B.} and Kaufman, {Kenneth M.} and Reveille, {John D.} and Juan-Manuel Anaya and Criswell, {Lindsey A.} and Vila, {Luis M} and Michelle Petri and Rosalind Ramsey-Goldman and Bae, {Sang Cheol} and Boackle, {Susan A.} and Vyse, {Timothy J.} and Niewold, {Timothy B.} and Philip Cohen and Powell, {David W}",
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language = "English (US)",
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Caster, DJ, Korte, EA, Nanda, SK, McLeish, KR, Oliver, RK, G'Sell, RT, Sheehan, RM, Freeman, DW, Coventry, SC, Kelly, JA, Guthridge, JM, James, JA, Moser Sivils, KL, Alarcon-Riquelme, ME, Scofield, RH, Adrianto, I, Gaffney, PM, Stevens, AM, Freedman, BI, Langefeld, CD, Tsao, BP, Pons-Estel, BA, Jacob, CO, Kamen, DL, Gilkeson, GS, Brown, EE, Alarcon, GS, Edberg, JC, Kimberly, RP, Martin, J, Merrill, JT, Harley, JB, Kaufman, KM, Reveille, JD, Anaya, J-M, Criswell, LA, Vila, LM, Petri, M, Ramsey-Goldman, R, Bae, SC, Boackle, SA, Vyse, TJ, Niewold, TB, Cohen, P & Powell, DW 2013, 'ABIN1 dysfunction as a genetic basis for lupus nephritis', Journal of the American Society of Nephrology : JASN, vol. 24, n.º 11, pp. 1743-54. https://doi.org/10.1681/ASN.2013020148

ABIN1 dysfunction as a genetic basis for lupus nephritis. / Caster, Dawn J.; Korte, Erik A.; Nanda, Sambit K.; McLeish, Kenneth R.; Oliver, Rebecca K.; G'Sell, Rachel T.; Sheehan, Ryan M.; Freeman, Darrell W.; Coventry, Susan C.; Kelly, Jennifer A.; Guthridge, Joel M.; James, Judith A.; Moser Sivils, Kathy L.; Alarcon-Riquelme, Marta E.; Scofield, R. Hal; Adrianto, Indra; Gaffney, Patrick M.; Stevens, Anne M.; Freedman, Barry I.; Langefeld, Carl D.; Tsao, Betty P.; Pons-Estel, Bernardo A; Jacob, Chaim O.; Kamen, Diane L.; Gilkeson, Gary S.; Brown, Elizabeth E.; Alarcon, Graciela S; Edberg, Jeffrey C.; Kimberly, Robert P.; Martin, Javier; Merrill, Joan T.; Harley, John B.; Kaufman, Kenneth M.; Reveille, John D.; Anaya, Juan-Manuel; Criswell, Lindsey A.; Vila, Luis M; Petri, Michelle; Ramsey-Goldman, Rosalind; Bae, Sang Cheol; Boackle, Susan A.; Vyse, Timothy J.; Niewold, Timothy B.; Cohen, Philip; Powell, David W.

En: Journal of the American Society of Nephrology : JASN, Vol. 24, N.º 11, 11.2013, p. 1743-54.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - ABIN1 dysfunction as a genetic basis for lupus nephritis

AU - Caster, Dawn J.

AU - Korte, Erik A.

AU - Nanda, Sambit K.

AU - McLeish, Kenneth R.

AU - Oliver, Rebecca K.

AU - G'Sell, Rachel T.

AU - Sheehan, Ryan M.

AU - Freeman, Darrell W.

AU - Coventry, Susan C.

AU - Kelly, Jennifer A.

AU - Guthridge, Joel M.

AU - James, Judith A.

AU - Moser Sivils, Kathy L.

AU - Alarcon-Riquelme, Marta E.

AU - Scofield, R. Hal

AU - Adrianto, Indra

AU - Gaffney, Patrick M.

AU - Stevens, Anne M.

AU - Freedman, Barry I.

AU - Langefeld, Carl D.

AU - Tsao, Betty P.

AU - Pons-Estel, Bernardo A

AU - Jacob, Chaim O.

AU - Kamen, Diane L.

AU - Gilkeson, Gary S.

AU - Brown, Elizabeth E.

AU - Alarcon, Graciela S

AU - Edberg, Jeffrey C.

AU - Kimberly, Robert P.

AU - Martin, Javier

AU - Merrill, Joan T.

AU - Harley, John B.

AU - Kaufman, Kenneth M.

AU - Reveille, John D.

AU - Anaya, Juan-Manuel

AU - Criswell, Lindsey A.

AU - Vila, Luis M

AU - Petri, Michelle

AU - Ramsey-Goldman, Rosalind

AU - Bae, Sang Cheol

AU - Boackle, Susan A.

AU - Vyse, Timothy J.

AU - Niewold, Timothy B.

AU - Cohen, Philip

AU - Powell, David W

PY - 2013/11

Y1 - 2013/11

N2 - The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-κB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-κB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-κB and mitogen-activated protein kinase activity.

AB - The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-κB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-κB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-κB and mitogen-activated protein kinase activity.

U2 - 10.1681/ASN.2013020148

DO - 10.1681/ASN.2013020148

M3 - Article

VL - 24

SP - 1743

EP - 1754

JO - Journal of the American Society of Nephrology : JASN

JF - Journal of the American Society of Nephrology : JASN

SN - 1046-6673

IS - 11

ER -

Caster DJ, Korte EA, Nanda SK, McLeish KR, Oliver RK, G'Sell RT y otros. ABIN1 dysfunction as a genetic basis for lupus nephritis. Journal of the American Society of Nephrology : JASN. 2013 nov;24(11):1743-54. https://doi.org/10.1681/ASN.2013020148