Table 1 of Collins, Mol Vis 2016; 22:454-471.

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).

Collins, Mol Vis 2016; 22:454-471. http://www.molvis.org/molvis/v22/454

©2016 Molecular Vision http://www.molvis.org/molvis/

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