Reference
S
t
u
d
y
s
u
b
j
e
c
t
s
∗
Source of study subjects MtDNA variant (s)
O
R
(
9
5
%
C
I
)
∗
∗
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)
T
4
2
1
6
C
∗
G
1
0
3
9
8
A
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
A
1
0
3
9
8
G
∗
A12308G (
𝑃
=
.
0
0
4
)
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)
(
C
A
)
8
-
1
1
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)
