title: Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus.
abstract: Mitochondrial dysfunction has been implicated in the pathogenesis of multiple sclerosis (MS) and systemic lupus erythematosus (SLE). This study re-investigates the roles of previously suggested candidate genes of energy metabolism (Complex I genes located in the nucleus and in the mitochondria) in patients with MS relative to ethnically matched SLE patients and healthy controls. After stringent correction for multiple testing, we reproduce the association of the mitochondrial (mt)DNA haplotype K* with MS, but reject the importance of previously suggested borderline associations with nuclear genes of Complex I. In addition, we detect the association of common variants of the mitochondrial ND2 and ATP6 genes with both MS and SLE, which raises the possibility of a shared mitochondrial genetic background of these two autoimmune diseases.
authors: VAMC Research, 800 Irving Avenue, Syracuse, NY 13210, USA.
authors: Tamara
authors: T
authors: Vyshkina
authors: Andrew
authors: A
authors: Sylvester
authors: Saud
authors: S
authors: Sadiq
authors: Eduardo
authors: E
authors: Bonilla
authors: Jeff A
authors: JA
authors: Canter
authors: Andras
authors: A
authors: Perl
authors: Bernadette
authors: B
authors: Kalman
mesh_terms: D000328:Adult; D000483:Alleles; D015415:Biomarkers; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics* / Q000276:immunology; D025261:Mitochondrial Proton-Translocating ATPases / Q000378:metabolism; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology; D009245:NADH Dehydrogenase / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial; C501005:MT-ATP6 protein, human; D009245:NADH Dehydrogenase; C521326:NADH dehydrogenase subunit 2, human; D025261:Mitochondrial Proton-Translocating ATPases