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. 2019 Aug 30;35(4):465–473. doi: 10.1007/s12291-019-00846-9

Table 1.

MTHFR Genotype and Allele frequnecies and homocysteine levels

C667T Mutation (N = 124) A1298C Mutation (N = 124) MS A2756G Mutation (N = 69) CBS T833C Mutation (N = 69)
Genotype frequencies % (n) ‘T’ allele frequency % Genotype frequencies % (n) ‘C’ allele frequency % Genotype frequencies % (n) ‘G’ allele frequency % Genotype frequencies % (n) ‘C’ allele frequency %
CC CT TT AA AC CC AA AG GG TT TC CC
Hcys levels between 0 – 10 μmol/L 81.5 (22) 18.5 (5) 0 9.3 37 (10) 33.3 (9) 29.6 (8) 46.3 53.3 (8) 20 (3) 26.7 (4) 36.7 86.7 (13) 13.3 (2) 0 6.7
Hcys levels between 10 – 15 μmol/L 78.3 (18) 21.7 (5) 0 10.9 26.1 (6) 60.9 (14) 13 (3) 43.5 66.7 (8) 33.3 (4) 0 16.7 83.3 (10) 16.7 (2) 0 8.3
Hcys levels between 15 – 30 μmol/L 71.9 (23) 21.9 (7) 6.2 (2) 17.2 53.1 (17) 40.6 (13) 6.25 (2) 26.56 40.9 (9) 54.6 (12) 4.5 (1) 31.8 86.4 (19) 13.6 (3) 0 6.8
Hcys levels between > 30 μmol/L 69.1 (29) 16.7 (7) 14.3 (6) 22.6 (p = 0.00069)* 40.5 (17) 45.2 (19) 14.3 (6) 36.9 30 (6) 50 (10) 20 (4) 45 (p < 0.002)* 95 (19) 5 (1) 0 2.5 (p = 0.0131)*
Total (n = 124) 74.2 (92) 19.4 (24) 6.5 (8) 16.1 (p = 0.0015)* 40.3 (50) 44.4 (55) 15.3 (19) 37.5 45 (31) 42 (29) 13 (9) 34.1 88.4 (61) 11.6 (8) 0 5.8

*Hardy–Weinberg equilibrium showed significance