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. 2006 Feb;43(2):162–166. doi: 10.1136/jmg.2005.032656

Table 2 Distribution of MTHFR alleles and genotypes among CHD cases and their parents.

Cases Mothers Fathers
677C→T (n = 347) (n = 341) (n = 290)
677C 480 (69.2%) 470 (68.9%) 403 (69.5%)
677T 214 (30.8%) 212 (31.1%) 177 (30.5%)
677CC 169 (48.7%) 169 (49.6%) 136 (46.9%)
677CT 142 (40.9%) 132 (38.7%) 131 (45.2%)
677TT 36 (10.4%) 40 (11.7%) 23 (7.9%)
677CT/677TT 178 (51.3%) 172 (50.4%) 154 (53.1%)
677CC/677CT 311 (89.6%) 301 (88.3%) 267 (92.1%)
1298A→C (n = 343) (n = 335) (n = 276)
1298A 523 (76.2%) 486 (72.5%) 394 (71.4%)
1298C 163 (23.8%) 184 (27.5%) 158 (28.6%)
1298AA 203 (59.2%) 177 (52.8%) 146 (52.9%)
1298AC 117 (34.1%) 132 (39.4%) 102 (37.0%)
1298CC 23 (6.7%) 26 (7.8%) 28 (10.1%)
1298AC/1298CC 140 (40.8%) 158 (47.2%) 130 (47.1%)
1298AA/1298AC 320 (93.3%) 309 (92.2%) 248 (89.9%)

CHD, congenital heart defect; MTHFR, methylenetetrahydrofolate reductase.