Mitochondrial DNA sequence variation and risk of meningioma

Academic Article


  • Background: Risk factors for meningioma include female gender, African American race, high body mass index (BMI), and exposure to ionizing radiation. Although genome-wide association studies (GWAS) have identified two nuclear genome risk loci for meningioma (rs12770228 and rs2686876), the relation between mitochondrial DNA (mtDNA) sequence variants and meningioma is unknown. Methods: We examined the association of 42 common germline mtDNA variants (minor allele frequency ≥ 5%), haplogroups, and genes with meningioma in 1080 controls and 478 meningioma cases from a case–control study conducted at medical centers in the southeastern United States. Associations were examined separately for meningioma overall and by WHO grade (n = 409 grade I and n = 69 grade II/III). Results: Overall, meningioma was significantly associated with being female (OR 2.85; 95% CI 2.21–3.69), self-reported African American race (OR 2.38, 95% CI 1.41–3.99), and being overweight (OR 1.48; 95% CI 1.11–1.97) or obese (OR 1.70; 95% CI 1.25–2.31). The variant m.16362T > C (rs62581341) in the mitochondrial control region was positively associated with grade II/III meningiomas (OR 2.33; 95% CI 1.14–4.77), but not grade I tumors (OR 0.99; 95% CI 0.64–1.53). Haplogroup L, a marker for African ancestry, was associated with meningioma overall (OR 2.92; 95% CI 1.01–8.44). However, after stratifying by self-reported race, this association was only apparent among the few self-reported Caucasians with this haplogroup (OR 6.35; 95% CI 1.56–25.9). No other mtDNA variant, haplogroup, or gene was associated with meningioma. Conclusion: Common mtDNA variants and major mtDNA haplogroups do not appear to have associations with the odds of developing meningioma.
  • Published In

    Digital Object Identifier (doi)

    Author List

  • Samanic CM; Teer JK; Thompson ZJ; Creed JH; Mokhtari S; Fridley BL; Nabors LB; Williams SL; Egan KM
  • Start Page

  • 319
  • End Page

  • 324
  • Volume

  • 155
  • Issue

  • 3