Research Article
The Effect of Multiple Single Nucleotide Polymorphisms in the Folic Acid Pathway Genes on Homocysteine Metabolism
Table 1
9 Folic acid related genes and 16 SNPs.
| SNP | Location | Chromosome site | Gene | Nucleotide and amino acid change | | MAF |
| rs1801131 | 11777063 | 1p36.3 | MTHFR | A→C | Glu→Ala | 0.992 | 0.169 | rs1801133 | 11778965 | 1p36.3 | MTHFR | C→T | Ala→Val | 0.051 | 0.437 | rs3737965 | 11789038 | 1p36.3 | MTHFR | G→A | — | 0.938 | 0.074 | rs1805087 | 235115123 | 1q43 | MTR | A→G | Asp→Gly | 0.737 | 0.097 | rs162036 | 7938959 | 5p15.31 | MTRR | A→G | Lys→Arg | 0.543 | 0.196 | rs1801394 | 7923973 | 5p15.31 | MTRR | A→G | — | 0.424 | 0.249 | rs2287780 | 7941304 | 5p15.31 | MTRR | C→T | Arg→Cys | 0.233 | 0.174 | rs2303080 | 7931424 | 5p15.31 | MTRR | T→A | Ser→Thr | 0.582 | 0.09 | rs3733890 | 78457715 | 5q13.1-q15 | BHMT | G→A | Arg→Gln | 0.434 | 0.3 | rs2236225 | 63978598 | 14q24 | MTHFD1 | G→A | Arg→Gln | 0.94 | 0.257 | rs1979277 | 18172821 | 17p11.2 | SHMT1 | C→T | Leu→Phe | 0.245 | 0.056 | rs1051266 | 45782222 | 21q22.3 | RFC1 | A→G | His→Arg | 0.057 | 0.463 | rs234713 | 3360960 | 21q22.3 | CBS | G→A | — | 0.564 | 0.028 | rs2851391 | 43360473 | 21q22.3 | CBS | C→T | — | 0.222 | 0.289 | rs9606756 | 29336860 | 22q12.2 | TCN2 | A→G | lle→Val | 0.736 | 0.018 |
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: the value of Hardy-Weinberg; MAF: minimum allele frequency; SNP: single nucleotide polymorphisms; BHMT: betaine homocysteine methyltransferase; CBS: cystathione beta synthase; MTHFD1: methylenetetrahydrofolate dehydrogenase1; MTHFR: methylenetetrahydrofolate reductase; MTR: methionine synthase; MTRR: methionine synthase reductase; RFC1: reduced folate carrier 1; TCN2: transcobalamin2; SHMT1: serine hydroxymethyltransferase1.
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