Table 1. Characteristics and genotype counts of the 17 SNPs in 5 homocysteine genes.
| Gene | SNP | Chr | Position (bp) | Codon change |
Genotype count (AA/AB/BB)* |
|||
|---|---|---|---|---|---|---|---|---|
| PXFS | PXFG | PXFNG | Controls | |||||
| MTHFR | rs1801131 | 1 | 11777063 | E429A | 13/29/37 | 11/20/26 | 2/9/11 | 9/19/22 |
| MTHFR | rs1801133 | 1 | 11778965 | A222V | 10/41/33 | 7/31/23 | 3/10/10 | 7/22/21 |
| MTHFR | rs17037396 | 1 | 11784634 | intron | 0/15/71 | 0/13/46 | 0/2/25 | 0/17/73 |
| MTR | rs12096955 | 1 | 235055726 | intron | 14/40/31 | 10/28/21 | 4/12/10 | 12/39/40 |
| MTR | rs2229274 | 1 | 235056807 | D294N | 0/3/80 | 0/2/59 | 0/1/21 | 0/4/53 |
| MTR | rs1805087 | 1 | 235115123 | D919G | 6/57/121 | 6/44/88 | 0/13/33 | 6/38/74 |
| MTRR | rs326122 | 5 | 7929611 | intron | 2/29/53 | 1/20/37 | 1/9/16 | 5/22/62 |
| MTRR | rs1532268 | 5 | 7931179 | S202L | 7/37/37 | 6/26/26 | 1/11/11 | 11/25/18 |
| MTRR | rs161870 | 5 | 7931192 | L206L | 17/27/20 | 11/22/14 | 6/5/6 | 10/19/11 |
| MTRR | rs162036 | 5 | 7938959 | R377K | 4/20/63 | 4/13/43 | 0/7/20 | 3/20/68 |
| MTHFD1 | rs8006686 | 14 | 63938424 | intron | 5/27/55 | 2/23/35 | 3/4/20 | 0/21/70 |
| MTHFD1 | rs2236225 | 14 | 63978598 | R653Q | 34/96/51 | 24/71/42 | 10/25/9 | 30/52/35 |
| MTHFD1 | rs11627387 | 14 | 63993730 | intron | 7/31/45 | 4/23/30 | 3/8/15 | 8/32/50 |
| CBS | rs2124459 | 21 | 43348783 | intron | 16/43/29 | 9/39/23 | 7/4/6 | 14/40/37 |
| CBS | rs1801181 | 21 | 43353685 | A360A | 21/75/77 | 13/60/58 | 8/15/19 | 14/43/49 |
| CBS | rs5742905 | 21 | 43356253 | I278T | 1/32/151 | 1/25/112 | 0/7/39 | 2/10/96 |
| CBS | rs234715 | 21 | 43361464 | intron | 4/29/55 | 3/25/43 | 1/4/12 | 5/30/54 |
The asterisk indicates that “A” represents the minor allele and “B” represents the common allele.