Table 1 of Hudson, Mol Vis 2009; 15:870-875.

Table 1. Non-synonymous MTHFR variants in LHON.

Genotype frequency Patients WT Het MT P
rs45438591 A 173 8 0 0.323
C 222 6 0
rs1801133 A 113 56 13 0.479
C 151 60 21
rs45571736 A 127 50 3 0.585
C 172 54 3
rs1801131 A 81 78 23 0.143
C 112 102 16
rs2274976 A 151 25 5 0.104
C 207 19 3
rs35737219 A 177 2 3 0.171
C 221 9 2
Allele frequency Patients WT MT P
rs45438591 A 354 8 0.2854
C 450 6
rs1801133 A 282 82 0.867
C 362 102
rs45571736 A 304 56 0.364
C 398 60
rs1801131 A 240 124 0.131
C 326 134
rs2274976 A 327 35 0.03
C 433 25
rs35737219 A 356 8 0.66
C 451 13

Comparison of 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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