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Pregled bibliografske jedinice broj: 1003208

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

Jiang, Simon H.; Athanasopoulos, Vicki; Ellyard, Julia I.; Chuah, Aaron; Cappello, Jean; Cook, Amelia; Prabhu, Savit B.; Cardenas, Jacob; Gu, Jinghua; Stanley, Maurice et al.
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus // Nature Communications, 10 (2019), 1; 2201, 12 doi:10.1038/s41467-019-10242-9 (međunarodna recenzija, članak, znanstveni)

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Naslov
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

Autori
Jiang, Simon H. ; Athanasopoulos, Vicki ; Ellyard, Julia I. ; Chuah, Aaron ; Cappello, Jean ; Cook, Amelia ; Prabhu, Savit B. ; Cardenas, Jacob ; Gu, Jinghua ; Stanley, Maurice ; Roco, Jonathan A. ; Papa, Ilenia ; Yabas, Mehmet ; Walters, Giles D. ; Burgio, Gaetan ; McKeon, Kathryn ; Byers, James M. ; Burrin, Charlotte ; Enders, Anselm ; Miosge, Lisa A. ; Canete, Pablo F. ; Jelusic, Marija ; Tasic, Velibor ; Lungu, Adrian C. ; Alexander, Stephen I. ; Kitching, Arthur R. ; Fulcher, David A. ; Shen, Nan ; Arsov, Todor ; Gatenby, Paul A. ; Babon, Jeff J. ; Mallon, Dominic F. ; de Lucas Collantes, Carmen ; Stone, Eric A. ; Wu, Philip ; Field, Matthew A. ; Andrews, Thomas D. ; Cho, Eun ; Pascual, Virginia ; Cook, Matthew C. ; Vinuesa, Carola G.

Izvornik
Nature Communications (2041-1723) 10 (2019), 1; 2201, 12

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Autoimmunity ; Immunogenetics ; Translational immunology ; Systemic lupus erythematosus

Sažetak
Abstract Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is thought that many common variant gene loci of weak effect act additively to predispose to common autoimmune diseases, while the contribution of rare variants remains unclear. Here we describe that rare coding variants in lupus-risk genes are present in most SLE patients and healthy controls. We demonstrate the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines and increase pathogenic lymphocytes in lupus-prone mice. Thus, rare gene variants are common in SLE and likely contribute to genetic risk.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Marija Jelušić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Jiang, Simon H.; Athanasopoulos, Vicki; Ellyard, Julia I.; Chuah, Aaron; Cappello, Jean; Cook, Amelia; Prabhu, Savit B.; Cardenas, Jacob; Gu, Jinghua; Stanley, Maurice et al.
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus // Nature Communications, 10 (2019), 1; 2201, 12 doi:10.1038/s41467-019-10242-9 (međunarodna recenzija, članak, znanstveni)
Jiang, S., Athanasopoulos, V., Ellyard, J., Chuah, A., Cappello, J., Cook, A., Prabhu, S., Cardenas, J., Gu, J. & Stanley, M. (2019) Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nature Communications, 10 (1), 2201, 12 doi:10.1038/s41467-019-10242-9.
@article{article, author = {Jiang, Simon H. and Athanasopoulos, Vicki and Ellyard, Julia I. and Chuah, Aaron and Cappello, Jean and Cook, Amelia and Prabhu, Savit B. and Cardenas, Jacob and Gu, Jinghua and Stanley, Maurice and Roco, Jonathan A. and Papa, Ilenia and Yabas, Mehmet and Walters, Giles D. and Burgio, Gaetan and McKeon, Kathryn and Byers, James M. and Burrin, Charlotte and Enders, Anselm and Miosge, Lisa A. and Canete, Pablo F. and Jelusic, Marija and Tasic, Velibor and Lungu, Adrian C. and Alexander, Stephen I. and Kitching, Arthur R. and Fulcher, David A. and Shen, Nan and Arsov, Todor and Gatenby, Paul A. and Babon, Jeff J. and Mallon, Dominic F. and de Lucas Collantes, Carmen and Stone, Eric A. and Wu, Philip and Field, Matthew A. and Andrews, Thomas D. and Cho, Eun and Pascual, Virginia and Cook, Matthew C. and Vinuesa, Carola G.}, year = {2019}, pages = {12}, DOI = {10.1038/s41467-019-10242-9}, chapter = {2201}, keywords = {Autoimmunity, Immunogenetics, Translational immunology, Systemic lupus erythematosus}, journal = {Nature Communications}, doi = {10.1038/s41467-019-10242-9}, volume = {10}, number = {1}, issn = {2041-1723}, title = {Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus}, keyword = {Autoimmunity, Immunogenetics, Translational immunology, Systemic lupus erythematosus}, chapternumber = {2201} }
@article{article, author = {Jiang, Simon H. and Athanasopoulos, Vicki and Ellyard, Julia I. and Chuah, Aaron and Cappello, Jean and Cook, Amelia and Prabhu, Savit B. and Cardenas, Jacob and Gu, Jinghua and Stanley, Maurice and Roco, Jonathan A. and Papa, Ilenia and Yabas, Mehmet and Walters, Giles D. and Burgio, Gaetan and McKeon, Kathryn and Byers, James M. and Burrin, Charlotte and Enders, Anselm and Miosge, Lisa A. and Canete, Pablo F. and Jelusic, Marija and Tasic, Velibor and Lungu, Adrian C. and Alexander, Stephen I. and Kitching, Arthur R. and Fulcher, David A. and Shen, Nan and Arsov, Todor and Gatenby, Paul A. and Babon, Jeff J. and Mallon, Dominic F. and de Lucas Collantes, Carmen and Stone, Eric A. and Wu, Philip and Field, Matthew A. and Andrews, Thomas D. and Cho, Eun and Pascual, Virginia and Cook, Matthew C. and Vinuesa, Carola G.}, year = {2019}, pages = {12}, DOI = {10.1038/s41467-019-10242-9}, chapter = {2201}, keywords = {Autoimmunity, Immunogenetics, Translational immunology, Systemic lupus erythematosus}, journal = {Nature Communications}, doi = {10.1038/s41467-019-10242-9}, volume = {10}, number = {1}, issn = {2041-1723}, title = {Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus}, keyword = {Autoimmunity, Immunogenetics, Translational immunology, Systemic lupus erythematosus}, chapternumber = {2201} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

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