| Yazarlar |
Simon H. Jiang
The John Curtin School of Medical Research, Australia |
Dr. Öğr. Üyesi Sevcan MERCAN
Kafkas Üniversitesi, Türkiye |
|
Ilenia Papa
The John Curtin School of Medical Research, Australia |
|
Max Moldovan
University of South Australia, Australia |
|
Giles D. Walters
Canberra Hospital, Australia |
|
Mark Koina
Canberra Hospital, Australia |
|
Mitali Fadia
Canberra Hospital, Australia |
|
Maurice Stanley
The John Curtin School of Medical Research, Australia |
|
Tom Lea-Henry
The John Curtin School of Medical Research, Australia |
|
Amelia Cook
The John Curtin School of Medical Research, Australia |
|
Julia Ellyard
The John Curtin School of Medical Research, Australia |
|
Brendan McMorran
The John Curtin School of Medical Research, Australia |
|
Madhivanan Sundaram
Royal Darwin Hospital, Australia |
|
Russell Thomson
Western Sydney University, Australia |
|
Pablo F. Canete
The John Curtin School of Medical Research, Australia |
|
Wendy Hoy
The University of Queensland, Australia |
|
Holly Hutton
Monash University, Australia |
|
Monika Srivastava
The John Curtin School of Medical Research, Australia |
|
Kathryn McKeon
The John Curtin School of Medical Research, Australia |
|
Iñigo de la Rúa Figueroa
Hospital de Gran Canaria Dr. Negrin, Spain |
|
Ricard Cervera
Hospital Clínic de Barcelona, Spain |
|
Raquel Faria
Centro Hospitalar Universitário de Santo António, Portugal |
|
Sandra D'Alfonso
Università degli Studi del Piemonte Orientale “Amedeo Avogadro”, Italy |
|
Mariele Gatto
Università degli Studi di Padova, Italy |
|
Vicki Athanasopoulos
The John Curtin School of Medical Research, Australia |
|
Matthew Field
James Cook University, Australia |
|
John Mathews
Melbourne School of Population and Global Health, Australia |
|
Eun Cho
The John Curtin School of Medical Research, Australia |
|
Thomas D. Andrews
The John Curtin School of Medical Research, Australia |
|
A. Richard Kitching
Monash University, Australia |
|
Matthew C. Cook
Canberra Hospital, Australia |
|
Marta Alarcon Riquelme
Centro Pfizer – Universidad de Granada – Junta de Andalucía de Genómica e Investigación Oncológica (, Spain |
|
Melanie Bahlo
Walter and Eliza Hall Institute of Medical Research, Australia |
|
Carola G. Vinuesa
The John Curtin School of Medical Research, Australia |
| Özet |
| We identify an intronic deletion in VANGL1 that predisposes to renal injury in high risk populations through a kidney-intrinsic process. Half of all SLE patients develop nephritis, yet the predisposing mechanisms to kidney damage remain poorly understood. There is limited evidence of genetic contribution to specific organ involvement in SLE.1,2 We identify a large deletion in intron 7 of Van Gogh Like 1 (VANGL1), which associates with nephritis in SLE patients. The same deletion occurs at increased frequency in an indigenous population (Tiwi Islanders) with 10-fold higher rates of kidney disease compared with non-indigenous populations. Vangl1 hemizygosity in mice results in spontaneous IgA and IgG deposition within the glomerular mesangium in the absence of autoimmune nephritis. Serum transfer into B cell-deficient Vangl1+/− mice results in mesangial IgG deposition indicating that Ig deposits occur in a kidney-intrinsic fashion in the absence of Vangl1. These results suggest that Vangl1 acts in the kidney to prevent Ig deposits and its deficiency may trigger nephritis in individuals with SLE. |
| Anahtar Kelimeler |
| antibody | autoimmune | chronic kidney disease | genetic | glomerulonephritis | immunoglobulin | lupus nephritis |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SCOPUS dergilerinde yayımlanan tam makale |
| Dergi Adı | Cell Reports Medicine |
| Dergi ISSN | 2666-3791 |
| Makale Dili | İngilizce |
| Basım Tarihi | 12-2021 |
| Cilt No | 2 |
| Sayı | 12 |
| Doi Numarası | 10.1016/j.xcrm.2021.100475 |
| Atıf Sayıları | |
| SCOPUS | 5 |
