Mitochondrial haplotype analysis in the MMRF CoMMpass cohort
Mitochondria are commonly known to generate energy in the form of ATP, but many diseases have been correlated with mitochondrial DNA mutations. This variation can be attributed to three causes: recent germline mutations, somatic mutations, and ancient adaptive polymorphisms (haplogroups). A haplogroup refers to a single line of descent and can consist of many similar haplotypes, which are the overall variant profiles inherited from a single parent. This project investigates the role of mitochondrial haplotypes in Multiple Myeloma. Multiple Myeloma is a type of blood cancer in which cancerous plasma cells become invasive and crowd out all the healthy cells in the bone marrow, resulting in osteoporosis, renal failure, and other symptoms. The tool Haplogrep 2 was used to assign haplogroups to samples from the MMRF CoMMpass cohort, which were compared to those from a control population (C4RCD). A comparison of different assay types, shallow whole genome long insert (WGL) and high coverage whole genome short insert (WGS), revealed that WGL assays were suitable to be used for haplogroup assignment based on having 100% concordance with the haplogroup assignments of the WGS assays. Furthermore, the H, K, L, and T haplogroups were found to be significantly overrepresented in the MMRF cohort when compared to the C4RCD cohort, indicating that people in these groups potentially have a greater risk of developing Multiple Myeloma.