Table 3 of Hudson, Mol Vis 2009; 15:870-875.

Table 3. LHON mutation specific MTHFR variation

Allele
3460 11778 14484 Other

A C P A C P A C P A C P
rs45438591 WT 32 47 0.231 118 149 0.333 8 8 1 12 16 0.393
HET 1 0
6 4
1 1
0 1
MT 0 0
0 0
0 0
0 0
rs1801133 WT 24 33 0.224 74 104 0.199 7 7 1 8 7 0.082
HET 10 12
43 38
2 2
1 8
MT 0 4
10 15
0 0
3 2
rs45571736 WT 31 34 0.018 83 118 0.166 1 6 0.028 12 14 0.124
HET 3 15
41 35
6 1
0 3
MT 0 0
1 1
2 2
0 0
rs1801131 WT 15 26 0.395 58 71 0.365 5 5 1 3 10 0.129
HET 14 20
52 71
4 4
8 7
MT 2 3
17 13
0 0
1 0
rs2274976 WT 27 41 0.624 111 143 0.13 4 7 0.148 9 16 0.141
HET 5 6
15 10
2 2
3 1
MT 2 1
0 2
0 3
0 0
rs35737219 WT 32 48 0.356 124 149 0.383 9 8 0.303 12 16 0.393
HET 0 0
2 7
0 1
0 1
MT 2 1
1 1
0 0
0 0
Genotype
rs45438591 WT 65 94 0.413 242 302 0.355 17 17 1 24 33 1
MT 1 0
6 4
1 1
0 1
rs1801133 WT 58 78 0.415 191 246 0.423 16 16 1 17 22 0.778
MT 10 20
63 68
2 2
7 12
rs45571736 WT 65 83 0.04 207 271 0.09 8 13 0.176 24 31 0.26
MT 3 15
43 37
10 5
0 3
rs1801131 WT 44 72 0.856 168 213 0.528 14 14 1 14 27 0.142
MT 18 26
86 97
4 4
10 7
rs2274976 WT 59 88 0.436 237 296 0.451 10 16 0.438 21 33 0.297
MT 9 8
15 14
2 8
3 1
rs35737219 WT 64 96 0.228 250 305 0.402 18 17 1 24 33 1
MT 4 2
4 9
0 1
0 1

Comparison of LHON mutation specific MTHFR variant genotype and allele frequencies between LHON patients (A) and controls (C) where WT and MT are homozygous wild-type and mutant respectively and Het is heterozygous. P is an uncorrected Pearson’s chi-square probability.

Hudson, Mol Vis 2009; 15:870-875. http://www.molvis.org/molvis/v15/a90

©2009 Molecular Vision http://www.molvis.org/molvis/

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