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Complete Mitochondrial DNA Genome Variation in the Swedish Population.

Kimberly Sturk-Andreaggi1,2,3, Martin Bodner4, Joseph D Ring2,3

  • 1Department of Immunology Genetics and Pathology, Uppsala University, 751 08 Uppsala, Sweden.

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|November 25, 2023
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Summary

This study characterized 934 mitochondrial genome (mitogenome) haplotypes from the Swedish population using whole genome sequencing data. The findings provide a valuable reference dataset for forensic applications and global population studies.

Keywords:
Swedenmitochondrial DNAnext generation sequencingnuclear mitochondrial DNA segment (NUMT)population datawhole genome sequencing

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Area of Science:

  • Genetics
  • Forensic Science

Background:

  • Complete mitochondrial genome (mitogenome) reference data is crucial for population databases and forensic applications.
  • High-quality mitogenome data enhances the statistical power of forensic analyses.

Purpose of the Study:

  • To characterize mitogenome variation within the Swedish population.
  • To generate a comprehensive mtDNA reference dataset for Sweden.
  • To contribute to global mitogenome haplotype frequency estimations.

Main Methods:

  • Analysis of mitochondrial DNA (mtDNA) reads from the SweGen whole genome sequencing (WGS) dataset.
  • Application of a 10% variant frequency threshold to mitigate nuclear mtDNA segments (NUMTs) interference.
  • Characterization of 934 forensic-quality mitogenome haplotypes.

Main Results:

  • Nearly all identified mitogenomes (99.1%) belonged to European haplogroups.
  • Haplogroup H was the most prevalent, accounting for almost 45% of haplotypes.
  • Specific northern Swedish and Finnish haplogroups (e.g., U5b1, W1a) were identified.
  • High haplotype diversity (0.9996) and a low random match probability (0.15%) were observed.

Conclusions:

  • The SweGen mitogenomes offer a substantial mtDNA reference dataset for the Swedish population.
  • The findings support previous mtDNA studies of the Swedish population and align with nuclear DNA analyses.
  • This dataset enhances forensic investigations and global population genetics research.