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		𝑃	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

𝑃: the 𝑃 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.