AI Article Synopsis
- Mitochondria are linked to human diseases, but it's challenging to replicate connections between mitochondrial DNA (mtDNA) SNPs and diseases like schizophrenia.
- A study involving almost 26,000 individuals found significant differences in mtDNA haplogroups and nuclear ancestry between healthy individuals and schizophrenia patients.
- Only two specific mtDNA SNPs showed an initial association with schizophrenia, but these links disappeared when considering the haplogroup and nuclear ancestry factors, highlighting the complexities in interpreting mtDNA studies.
Article Abstract
Mitochondria play a significant role in human diseases. However, disease associations with mitochondrial DNA (mtDNA) SNPs have proven difficult to replicate. An analysis of eight schizophrenia-associated mtDNA SNPs, in 23,743 Danes without a psychiatric diagnosis and 2,538 schizophrenia patients, revealed marked inter-allelic differences in mitochondrial haplogroup affiliation and nuclear ancestry. This bi-genomic dependence could entail population stratification. Only two mitochondrial SNPs, m.15043A and m.15218G, were significantly associated with schizophrenia. However, these associations disappeared when corrected for haplogroup affiliation and nuclear ancestry. The extensive bi-genomic dependence documented here is a major concern when interpreting historic, as well as designing future, mtDNA association studies.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287820 | PMC |
| http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208828 | PLOS |
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