Table 1.

Association studies of mtDNA variants and breast cancer risk.

Reference	Study subjects*	Source of study subjects	MtDNA variant (s)	OR (95% CI)**
Canter et al. [24]	48 AA cases, 54 AA controls (USA)	Hospital-based	G10398A	2.90 (0.61–18.3)
	654 AA cases, 605 AA controls (USA)	Population-based	G10398A	1.60 (1.10–2.31)
	879 White cases, 760 White controls (USA)			1.03 (0.81–1.31)
Canter et al. [92]	AA subjects as in Canter et al. (2005)		T4216C*G10398A	3.31(1.07–10.25)
Darvishi et al. [94]	124 cases, 273 ethnically matched controls (India)	Details not provided	G10398A	1.73 (1.13–2.66)
Bai et al. [91]	156 non-Jewish European-American cases, 260 non-Jewish European-American controls (USA)	Cases referred to Molecular Genetics Laboratory for BRCA1/2 testing; controls were individuals referred for genetic testing	69 variants tested.
			Significant results:
			G9055A	3.03 (1.63–5.63)
			A10398G	1.79 (1.14–2.81)
			T16519C	1.98 (1.25–3.12)
			T3197C	0.31 (0.13–0.75)
			G13708A	0.47 (0.24–0.92)
			Haplotype K	3.30 (1.63–5.63)
			Haplotype U	0.37 (0.19–0.73)
Mosquera-Miguel et al. [95]	464 cases, 453 ethnicity-matched controls (continental Spain), 302 cases, 295 ethnicity-matched controls (Canary Islands)	Details not provided	25 variants tested	None of the variants was associated with altered risk in either study after adjustment for multiple testing
Covarrubias et al. [36]	Same subjects as in Bai et al. [91]		17 variants tested for all possible 2-way interactions	A10398G*A12308G (P = .004) All other interactions NS after control for FWER
Setiawan et al. [97]	542 AA cases, 282 AA controls (USA)	Population-based	G10398A	1.73 (0.87–3.47)
	391 AA cases, 460 AA controls (USA)	Multiethnic cohort	G10398A	1.08 (0.62–1.86)
	524 AA cases, 236 AA controls (USA)	Population-based	G10398A	0.81 (0.43–1.51)
Ye et al. [98]	1058 Chinese cases, 1129 Chinese controls (China)	Population-based	D-loop (CA)n repeat polymorphism:
			(CA)5	1.00 (reference)
			(CA)4	1.02 (0.85–1.21)
			(CA)6	0.84 (0.50–1.41)
			(CA)7	0.50 (0.27–0.93)
			(CA)8–11	1.59 (0.64–3.91)
Czarnecka et al. [93]	44 Polish cases, 100 Polish controls (Poland)	Clinic-based cases, population-based controls	A10398G	9.51(2.64–33.88)
Pezzotti et al. [96]	1561 cases, 2209 controls in Nurses' Health Study; 678 cases, 669 controls in Women's Health Study	Population-based	A10398G
			Nurses' Health Study	1.01 (0.85–1.19)
			Women's Health Study	0.94 (0.72–1.22)

*AA = African-American; NS = not significant; FWER = familywise error rate

**Canter et al. [24] estimates are crude estimates—adjustment for other factors in population-based component did not change them; Darvishi et al. [94] estimates are crude; Bai et al. [91] P-values adjusted for familywise error rate.