Implementing a new variant load model to investigate the role of mtDNA in oxidative stress and inflammation in a bi-ethnic cohort: the SABPA study

Mitochondrial DNA population variation is not associated with Alzheimer’s in the Japanese population: A consistent finding across global populations

“…In summary, a consistent null picture in the context of the role of mtDNA variation in AD is emerging [ 11 , 22 ], after application of a number of methods for investigating this notion. Further exploration of mtDNA variant load association in the context of ageing would benefit from larger, dedicated cohorts, consisting of individuals with detailed clinical and demographic information this approach has been used in other phenotypes [ 2 , 10 ] such cohorts exist in the ageing context but as yet mtDNA sequence data is unavailable [ 23 , 24 ].…”

“…In response to the conflicting data generated by the haplogroup association model, the variant load model (VLM) has recently been introduced [1,[8][9][10]. The VLM investigates the combined effects of population variants predicted to be mildly deleterious, most of which are rare.…”

The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects

“…Consequently, more powerful parametric statistics can be applied and fewer comparisons are needed, thus granting this approach greater statistical power with smaller sample sizes than the traditional haplogroup association method [147]. For instance, a recent study with a total sample size of 82 employed the variant load approach to investigate the role of mtDNA in oxidative stress and inflammation [148]. This study had 80% power to detect a correlation (with moderate effect size) between markers of oxidative stress and inflammation and variant loads.…”