학술논문
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Document Type
article
Author
Simon H. Jiang; Vicki Athanasopoulos; Julia I. Ellyard; Aaron Chuah; Jean Cappello; Amelia Cook; Savit B. Prabhu; Jacob Cardenas; Jinghua Gu; Maurice Stanley; Jonathan A. Roco; Ilenia Papa; Mehmet Yabas; Giles D. Walters; Gaetan Burgio; Kathryn McKeon; James M. Byers; Charlotte Burrin; Anselm Enders; Lisa A. Miosge; Pablo F. Canete; Marija Jelusic; Velibor Tasic; Adrian C. Lungu; Stephen I. Alexander; Arthur R. Kitching; David A. Fulcher; Nan Shen; Todor Arsov; Paul A. Gatenby; Jeff J. Babon; Dominic F. Mallon; Carmen de Lucas Collantes; Eric A. Stone; Philip Wu; Matthew A. Field; Thomas D. Andrews; Eun Cho; Virginia Pascual; Matthew C. Cook; Carola G. Vinuesa
Source
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Subject
Language
English
ISSN
2041-1723
Abstract
Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls, but only the variants found in lupus patients alter gene function.