Evaluation of ATG5 polymorphisms in Italian patients with systemic lupus erythematosus: contribution to disease susceptibility and clinical phenotypes

Lupus
C CiccacciP Borgiani

Abstract

Systemic lupus erythematosus (SLE) is a common heterogeneous autoimmune disease that is caused by the involvement both of genetic and environmental factors. There is evidence that autophagy is involved in several aspects of SLE pathogenesis. In particular, polymorphisms in the ATG5 gene have been observed to be associated with disease susceptibility. Our aim was to verify if ATG5 polymorphisms are involved in the susceptibility to disease and its clinical phenotypes in an Italian cohort of SLE patients. This study involved 315 SLE patients and 265 healthy controls. Three polymorphisms in the ATG5 gene (rs573775, rs6568431 and rs2245214) were investigated by allelic discrimination assay. A case-control association study, a genotype/phenotype correlation analysis and a haplotype study were performed. Moreover, an expression study was conducted in peripheral blood mononuclear cells from 15 SLE patients to verify a possible effect of the three SNPs on the expression of ATG5. Among the three investigated SNPs, only the rs573775 SNP was significantly associated with disease susceptibility with the variant allele conferring a higher risk of developing SLE (OR = 1.50, p = 0.018 and OR = 1.48, p = 0.007 at the genotypic and allelic leve...Continue Reading

Associated Clinical Trials

References

Jan 22, 2008·Nature Genetics·UNKNOWN International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)Jennifer A Kelly
Feb 29, 2008·The New England Journal of Medicine·Anisur Rahman, David A Isenberg
Dec 11, 2008·Autophagy·Mehrdad AlirezaeiStephen J Crocker
Sep 25, 2010·Autoimmunity Reviews·R GualtierottiP L Meroni
Jan 21, 2011·Nature·Beth LevineHerbert W Virgin
May 14, 2011·Molecular Ecology Resources·Laurent Excoffier, Heidi E L Lischer
Jan 17, 2012·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Marina PierdominiciElena Ortona
Apr 24, 2012·Autophagy·Frédéric GrosSylviane Muller
Jul 28, 2012·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Cristiano AlessandriMarina Pierdominici
Oct 11, 2012·PloS One·Elisa Alonso-PerezUNKNOWN European Consortium of SLE DNA Collections
Feb 12, 2013·Journal of Autoimmunity·Yong CuiXuejun Zhang
Apr 19, 2013·Frontiers in Immunology·Abhisek Bhattacharya, N Tony Eissa
Nov 10, 2013·PloS One·Patricia LópezAna Suárez
Jun 10, 2015·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Zhen YangCornelia M Weyand
Jun 30, 2015·Autophagy·Chi G WeindelBrigitte T Huber
Oct 26, 2016·Journal of Autoimmunity·Maria Teruel, Marta E Alarcón-Riquelme
Sep 28, 2016·International Immunopharmacology·Xiao LiuJinhua Xu

❮ Previous
Next ❯

Citations

Aug 28, 2019·Cells·Alf Håkon Lystad, Anne Simonsen
Mar 4, 2020·International Journal of Molecular Sciences·Fiona LimanaqiFrancesco Fornai
Aug 13, 2020·International Journal of Rheumatic Diseases·Ayat M KamelMohamed A El-Feky
May 8, 2020·Cardiology Research and Practice·Yexin ZhangBo Yan
Nov 6, 2020·International Journal of Molecular Sciences·Isaac Tamargo-GómezGuillermo Mariño
Jul 10, 2021·Autophagy·Muhammed KocakOle Pless

❮ Previous
Next ❯

Methods Mentioned

BETA
blood drawing
Assay

Software Mentioned

SPSS

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Autophagy & Model Organisms

Autophagy is a cellular process that allows degradation by the lysosome of cytoplasmic components such as proteins or organelles. Here is the latest research on autophagy & model organisms