BioMed Research International / 2014 / Article / Tab 1

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.

SNPLocation Chromosome site Gene Nucleotide and amino acid change MAF

rs1801131 117770631p36.3MTHFRA→CGlu→Ala0.9920.169
rs1801133 117789651p36.3MTHFRC→TAla→Val0.0510.437
rs3737965117890381p36.3MTHFRG→A0.9380.074
rs1805087 2351151231q43MTRA→GAsp→Gly0.7370.097
rs162036 79389595p15.31MTRRA→GLys→Arg0.5430.196
rs1801394 79239735p15.31MTRRA→G0.4240.249
rs2287780 79413045p15.31MTRRC→TArg→Cys0.2330.174
rs2303080 79314245p15.31MTRRT→ASer→Thr0.5820.09
rs3733890 784577155q13.1-q15BHMTG→AArg→Gln0.4340.3
rs2236225 6397859814q24MTHFD1G→AArg→Gln0.940.257
rs1979277 1817282117p11.2SHMT1C→TLeu→Phe0.2450.056
rs1051266 4578222221q22.3RFC1A→GHis→Arg0.0570.463
rs234713 336096021q22.3CBSG→A0.5640.028
rs28513914336047321q22.3CBSC→T0.2220.289
rs9606756 2933686022q12.2TCN2A→Glle→Val0.7360.018

: 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.