Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

BMC Medical Genetics

Table 2 Pearson's chi-square test for cases versus controls of SNPs and most frequent hgs

	rCRS ref.^a	MA^b	MAF_CA ^c	MAF_CO ^c	CHI2 Exact	P-value	Adjusted P-value^d	OR (95% CI)^e
3010G > A	G	A	0.24	0.27	0.557	0.455	1	0.85 (0.56-1.29)
3915G > A	G	A	0.02	0.04	0.874	0.350	0.995	0.57 (0.17-1.89)
3992C > T	C	T	0.00	0.01	1.320	0.251	0.979	-
4216T > C	T	C	0.13	0.16	0.939	0.333	0.993	0.77 (0.46-1-30)
4336T > C	T	C	0.04	0.04	0.047	0.828	1	1.11 (0.45-2.72)
4529A > T	A	T	0.01	0.01	0.182	0.669	1	0.64 (0.08-5.13)
4580G > A	G	A	0.06	0.03	1.620	0.203	0.941	1.69 (0.75-3.82)
4769A > G	A	A	0.02	0.02	0.060	0.799	1	1.17 (0.34-4.04)
4793A > C	A	G	0.00	0.01	1.166	0.280	0.987	-
6776T > C	T	C	0.04	0.05	0.577	0.448	1	0.69 (0.27-1.79)
7028C > T	C	C	0.40	0.44	0.683	0.409	0.999	1.16 (0.81-1.67)
10398A > G	A	G	0.15	0.20	2.010	0.156	0.902	0.70 (0.43-1.15)
10400C > T	C	T	0.02	0.01	1.023	0.312	0.991	1.97 (0.52-7.52)
10463T > C	T	C	0.09	0.09	0.001	0.982	1	1.01 (0.53-1.92)
10873T > C	T	C	0.06	0.04	1.609	0.205	0.951	0.61 (0.28-1.32)
12308A > G	A	G	0.19	0.23	1.270	0.260	0.982	0.77 (0.49-1.21)
12705C > T	C	T	0.14	0.08	4.857	0.028	0.315	1.82 (1.06-3.13)
13966A > G	A	G	0.02	0.02	0.001	0.972	1	1.02 (0.29-3.58)
14766C > T	C	T	0.47	0.49	0.242	0.622	1	0.91 (0.64-1.31)
H	-	-	0.40	0.44	0.791	0.374	0.999	0.85 (0.59-1.22)
H1	-	-	0.16	0.19	0.689	0.406	0.999	1.22 (0.76-1.96)
HV	-	-	0.52	0.50	0.121	0.728	1	1.06 (0.75-1.51)
U	-	-	0.19	0.23	1.248	0.264	0.983	1.29 (0.83-2.01)
J	-	-	0.03	0.08	4.411	0.036	0.390	2.61 (1.03-6.61)
T	-	-	0.09	0.08	0.077	0.782	1	0.92 (0.49-1.71)
JT	-	-	0.12	0.16	1.727	0.189	0.941	1.42 (0.84-2.41)

rCRS = revised Cambridge Reference Sequence; MA = minor allele; MAF = minimum allele frequency.
^arCRS: allele in the revised Cambridge Reference Sequence (rCRS)[41];
^bMA: minor allele;
^cMAF: minimum allele frequency computed on cases (MAF_CA) and control (MAF_CO) individuals;
^dAdjusted P-value: adjustment of chi-square P-values was carried out with a permutation-based approach; number of permutations = 20,000;
^eOR (95%CI): ORs were computed with the rCRS allele as a reference

ISSN: 1471-2350