| Title: | Mitochondrial DNA sequence variation and risk of glioma |
| Journal: | Mitochondrion |
| Published: | 12 Jan 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/35032707/ |
| DOI: | https://doi.org/10.1016/j.mito.2022.01.002 |
| URL: | http://manuscript.elsevier.com/S1567724922000022/pdf/S1567724922000022.pdf |
| Citations: | 2 (1 in last 2 years) as of 8 Aug 2024 |
Publication 12609
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Abstract
BACKGROUND: Malignant gliomas are the most common primary adult brain tumors, with a poor prognosis and ill-defined etiology. Mitochondrial DNA (mtDNA) sequence variation has been linked with certain cancers; however, research on glioma is lacking.</p>
METHODS: We examined the association of common (minor allele frequency ≥ 5%) germline mtDNA variants and haplogroups with glioma risk in 1,566 glioma cases and 1,017 controls from a US case-control study, and 425 glioma cases and 1,534 matched controls from the UK Biobank cohort (UKB). DNA samples were genotyped using the UK Biobank array that included a set of common and rare mtDNA variants. Risk associations were examined separately for glioblastoma (GBM) and lower grade tumors (non-GBM).</p>
RESULTS: In the US study, haplogroup W was inversely associated with glioma when compared with haplogroup H (OR = 0.43, 95%CI: 0.23-0.79); this association was not demonstrated in the UKB (OR = 1.07, 95%CI: 0.47-2.43). In the UKB, the variant m.3010G > A was significantly associated with GBM (OR = 1.32; 95%CI: 1.01-1.73; p = 0.04), but not non-GBM (1.23; 95%CI: 0.78-1.95; p = 0.38); no similar association was observed in the US study. In the US study, the variant m.14798 T > C, was significantly associated with non-GBM (OR = 0.72; 95%CI: 0.53-0.99), but not GBM (OR = 0.86; 95%CI: 0.66-1.11), whereas in the UKB, a positive association was observed between this variant and GBM (OR = 1.46; 95%CI: 1.06-2.02) but not non-GBM (OR = 0.92; 95%CI: 0.52-1.63). None of these associations were significant after adjustment for multiple testing.</p>
CONCLUSION: The association of inherited mtDNA variation, including rare and singleton variants, with glioma risk merits further study.</p>
7 Keywords
- Adult
- Brain Neoplasms
- Case-Control Studies
- DNA, Mitochondrial
- Glioblastoma
- Glioma
- Humans
8 Authors
- Claudine M. Samanic
- Jamie K. Teer
- Zachary J. Thompson
- Jordan H. Creed
- Brooke L. Fridley
- L. Burt Nabors
- Sion L. Williams
- Kathleen M. Egan
1 Application
| Application ID | Title |
|---|---|
| 16944 | Genetic epidemiology of adult primary brain tumors |
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