An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank

E Yonova-Doing, C Calabrese, A Gomez-Duran… - Nature …, 2021 - nature.com
Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly
due to a lack of genotype calling and quality-control procedures. Developing an at-scale …

Meta-analysis of the Selected Genetic Variants in Immune-Related Genes and Multiple Sclerosis Risk

W Zhou, W Hu, L Tang, X Ma, J Liao, Z Yu, M Qi… - Molecular …, 2024 - Springer
Previous studies have suggested that certain variants in immune-related genes may
participate in the pathogenesis of multiple sclerosis (MS), including rs17824933 in the CD6 …

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis

G Al-Kafaji, HF Bakheit, F AlAli, M Fattah, S Alhajeri… - PLoS …, 2022 - journals.plos.org
Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system with
genetics and environmental determinants. Studies focused on the neurogenetics of MS …

Mitonuclear interactions influence multiple sclerosis risk

M Kozin, O Kulakova, I Kiselev, N Baulina, A Boyko… - Gene, 2020 - Elsevier
Multiple sclerosis (MS) is a chronic disease of the central nervous system characterized by
the autoimmune inflammation, demyelination, and neurodegeneration. This complex …

mtDNA haplogroup A enhances the effect of obesity on the risk of knee OA in a Mexican population

P Ramos-Louro, RD Arellano Pérez Vertti, AL Reyes… - Scientific Reports, 2022 - nature.com
To evaluate the influence of mitochondrial DNA haplogroups on the risk of knee OA in terms
of their interaction with obesity, in a population from Mexico. Samples were obtained from …

Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis

G Al-Kafaji, MS Alwehaidah, MM Alsabbagh… - Plos one, 2022 - journals.plos.org
Previous studies have suggested that mitochondrial DNA (mtDNA) variants are associated
with multiple sclerosis (MS), a complex neurodegenerative immune-mediated disease of the …

Mitochondrial DNA in osteoarthritis disease

FJ Blanco, I Rego-Pérez - Clinical Rheumatology, 2020 - Springer
Osteoarthritis (OA) is the most prevalent chronic joint disease, and we actually know that the
activation of maladaptive responses to injury, including pro-inflammatory pathways, leads to …

Mitonuclear epistasis involving TP63 and haplogroup Uk: Risk of rapid progression of knee OA in patients from the OAI

A Durán-Sotuela, N Oreiro… - Osteoarthritis and …, 2024 - Elsevier
Objective To investigate genetic interactions between mitochondrial deoxyribonucleic acid
(mtDNA) haplogroups and nuclear single nucleotide polymorphisms (nSNPs) to analyze …

Historical and Phylogeographic Influences on Mitochondrial DNA Diversity in Norwegians

D Kristjansson - 2023 - bora.uib.no
Mitochondrial DNA (mtDNA) has been an invaluable source of genetic information for
understanding the long-term migration history, genetic diversity, and demographic structure …

Polymorphic variants in the PVT1 locus affect multiple sclerosis severity

IS Kiselev, MS Kozin, NM Baulina… - Neurology …, 2020 - nnp.ima-press.net
Multiple sclerosis (MS) is a chronic autoimmune disease, in the pathogenesis of which the
concurrence of demyelination of central nervous system (CNS) axons and …