Nina Oparina1, Manuel Martínez-Bueno2, Marta E Alarcón-Riquelme1,2. 1. Unit of Chronic Inflammatory Diseases, Institute for Environmental Medicine IMM, Karolinska Institutet, Solna, Sweden. 2. GENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Parque Tecnológico de la Salud, Granada, Spain.
Abstract
PURPOSE OF REVIEW: The aim of this study is to update on the most recent findings on the genetics of systemic lupus erythematosus. RECENT FINDINGS: Our overview focuses particularly on results from expression quantitative trait loci, exome sequencing, and rare variants and their impact on disease. SUMMARY: Systemic lupus erythematosus is a systemic autoimmune disease for which a significant number of susceptibility genes have been identified. Several genome-wide association studies were recently published in different populations that provide a better picture of the molecular mechanisms. It is becoming clear that the genetic architecture of lupus is quite well established but more information is required on the role of rare variants.
PURPOSE OF REVIEW: The aim of this study is to update on the most recent findings on the genetics of systemic lupus erythematosus. RECENT FINDINGS: Our overview focuses particularly on results from expression quantitative trait loci, exome sequencing, and rare variants and their impact on disease. SUMMARY:Systemic lupus erythematosus is a systemic autoimmune disease for which a significant number of susceptibility genes have been identified. Several genome-wide association studies were recently published in different populations that provide a better picture of the molecular mechanisms. It is becoming clear that the genetic architecture of lupus is quite well established but more information is required on the role of rare variants.
Authors: Bhupinder Singh; Guru P Maiti; Xujie Zhou; Mehdi Fazel-Najafabadi; Sang-Cheol Bae; Celi Sun; Chikashi Terao; Yukinori Okada; Kek Heng Chua; Yuta Kochi; Joel M Guthridge; Hong Zhang; Matthew Weirauch; Judith A James; John B Harley; Gaurav K Varshney; Loren L Looger; Swapan K Nath Journal: Arthritis Rheumatol Date: 2021-10-29 Impact factor: 10.995
Authors: Nathaniel Stearrett; Tyson Dawson; Ali Rahnavard; Prathyusha Bachali; Matthew L Bendall; Chen Zeng; Roberto Caricchio; Marcos Pérez-Losada; Amrie C Grammer; Peter E Lipsky; Keith A Crandall Journal: Front Immunol Date: 2021-04-27 Impact factor: 7.561