MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.

ABSTRACT: Human mtDNA genetic variants have traditionally been considered markers for ancient population migrations. However, during the past three decades, these variants have been associated with altered susceptibility to various phenotypes, thus supporting their importance for human health. Nevertheless, mtDNA disease association has frequently been supported only in certain populations, due either to population stratification or differential epistatic compensations among populations. To partially overcome these obstacles, we performed meta-analysis of the multiple mtDNA association studies conducted until 2016, encompassing 53,975 patients and 63,323 controls. Our findings support the association of mtDNA haplogroups and recurrent variants with specific phenotypes such as Parkinson's disease, ty

SUBMITTER: Marom S 

PROVIDER: S-EPMC5322532 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature