prikaz prve stranice dokumenta Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
  Download
PDF 3.15 MB
Scientific paper - Original scientific paper
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Nature Communications, 10 (2019), 1; https://doi.org/10.1038/s41467-019-10242-9
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.; Jelušić, 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. More authors...

Cite this document

Jiang, S. H., Athanasopoulos, V., Ellyard, J. I., Chuah, A., Cappello, J., Cook, A. ... Vinuesa, C. G. (2019). Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nature Communications, 10. (1). doi: 10.1038/s41467-019-10242-9

Jiang, Simon H., et al. "Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus." Nature Communications, vol. 10, no. 1, 2019. https://doi.org/10.1038/s41467-019-10242-9

Jiang, Simon H., Vicki Athanasopoulos, Julia I. Ellyard, Aaron Chuah, Jean Cappello, Amelia Cook, Savit B. Prabhu, et al. "Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus." Nature Communications 10, no. 1 (2019). https://doi.org/10.1038/s41467-019-10242-9

Jiang, S. H., et al. (2019) 'Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus', Nature Communications, 10(1). doi: 10.1038/s41467-019-10242-9

Jiang SH, Athanasopoulos V, Ellyard JI, Chuah A, Cappello J, Cook A, and sur.. Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nature Communications [Internet]. 2019 May 17 [cited 2024 May 03];10(1). doi: 10.1038/s41467-019-10242-9

S. H. Jiang, et al., "Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus", Nature Communications, vol. 10, no. 1, May 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:742418. [Accessed: 03 May 2024]

Please login to the repository to save this object to your list.
Metadata
Title (english)Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
AuthorSimon H. Jiang
AuthorVicki Athanasopoulos
AuthorJulia I. Ellyard
AuthorAaron Chuah
AuthorJean Cappello
AuthorAmelia Cook
AuthorSavit B. Prabhu
AuthorJacob Cardenas
AuthorJinghua Gu
AuthorMaurice Stanley
AuthorJonathan A. Roco
AuthorIlenia Papa
AuthorMehmet Yabas
AuthorGiles D. Walters
AuthorGaetan Burgio
AuthorKathryn McKeon
AuthorJames M. Byers
AuthorCharlotte Burrin
AuthorAnselm Enders
AuthorLisa A. Miosge
AuthorPablo F. Canete
AuthorMarija Jelušić
AuthorVelibor Tasic
AuthorAdrian C. Lungu
AuthorStephen I. Alexander
AuthorArthur R. Kitching
AuthorDavid A. Fulcher
AuthorNan Shen
AuthorTodor Arsov
AuthorPaul A. Gatenby
AuthorJeff J. Babon
AuthorDominic F. Mallon
AuthorCarmen de Lucas Collantes
AuthorEric A. Stone
AuthorPhilip Wu
AuthorMatthew A. Field
AuthorThomas D. Andrews
AuthorEun Cho
AuthorVirginia Pascual
AuthorMatthew C. Cook
AuthorCarola G. Vinuesa
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleNature Communications
Numberingvol. 10, no. 1
p-ISSN2041-1723
DOIhttps://doi.org/10.1038/s41467-019-10242-9
URN:NBNurn:nbn:hr:105:742418
Publication2019-05-17
Document URLhttp://doi.org/10.1038/s41467-019-10242-9
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 10:35:04