Table 1. Frequencies of common variants identified by Sanger sequencing within the mitochondrial 16s RNA gene (MT-RNR2).
| rCRS variant | Cases (n=1,258) | Controls (n=832) | Odds ratio | P value | Replication group p value (n=1,389) | Combined p value (n=3,479) | Haplogroup(s) |
|---|---|---|---|---|---|---|---|
| m.2220A>G |
0.02 |
0.012 |
1.7 |
0.17 |
0.023* |
0.013* |
L1c2b1a'b |
| m.2220A>T |
0.004 |
0.002 |
1.6 |
0.711 |
0.358 |
0.289 |
L4b2b1 |
| m.2245A>G |
0.023 |
0.021 |
1.1 |
0.913 |
0.625 |
0.75 |
L0a'b'f'g |
| m.2245A>C |
0.017 |
0.016 |
1.1 |
0.989 |
0.18 |
0.423 |
L0a1a2 |
| m.2332C>T |
0.122 |
0.102 |
1.2 |
0.131 |
0.271 |
0.020* |
L2b'c'd, L3b1a8 |
| m.2352T>C |
0.246 |
0.294 |
0.8 |
0.017* |
0.6 |
0.113 |
L1b, L3e |
| m.2358A>G |
0.047 |
0.048 |
1 |
0.999 |
0.6 |
0.7 |
L2b |
| m.2395delA |
0.109 |
0.09 |
1.2 |
0.19 |
1 |
0.624 |
L1c |
| m.2416T>C |
0.317 |
0.263 |
1.2 |
0.008* |
0.767 |
0.017* |
L2 |
| m.2483T>C |
0.019 |
0.022 |
0.9 |
0.58 |
1 |
0.73 |
L3e2b1a |
| m.2706A>G |
0.975 |
0.966 |
0.7 |
0.24 |
1 |
0.341 |
Many |
| m.2758G>A |
0.238 |
0.22 |
1.1 |
0.352 |
nd |
|
Many |
| m.2768A>G |
0.091 |
0.093 |
1 |
0.942 |
nd |
|
L1b |
| m.2789C>T |
0.188 |
0.159 |
1.2 |
0.106 |
nd |
|
L2a1'2'3′4 |
| m.2885T>C |
0.241 |
0.223 |
1.1 |
0.375 |
nd |
|
Many |
| m.3010G>A |
0.052 |
0.051 |
1 |
0.953 |
nd |
|
L2a1c, H65a |
| m.3200T>A | 0.064 | 0.044 | 1.4 | 0.066 | nd | L2c |
Sanger sequencing on individual samples confirmed the presence of variance at 15 positions with minor allele frequencies greater than 2%, in addition to rare variants (data not shown). DNA samples used for pooled sequencing were drawn from the first group of 2,090 POAAGG subjects (1,258 cases, 832 controls). The replication group consisted of an additional 1,389 POAAGG subjects (510 cases, 879 controls).