Genes involved in one-carbon metabolism and their polymorphic variants investigated in relation to non-Hodgkin lymphoma, the NCI-SEER Case-Control Study, 1998-2000
| Gene . | Enzyme/protein . | Location . | dbSNP ID [amino acid change] . |
|---|---|---|---|
| BHMT | Betaine-homocysteine methyltransferase | 5q13.1-q15 | rs585800 (Ex8+453A>T)† |
| CBS | Cystathionine-beta-synthase | 21q22.3 | rs234706 (Ex9+33C>T)‡§ [Y233Y]; rs12613 (Ex18-39IG>A)‡; rs1801181 (Ex13+41C>T)‡ [A360A] |
| FPGS | Folylpolyglutamate synthase | 9q34.1 | rs10106 (Ex15-263T>C)‡ |
| FTHFD | 10-Formyltetrahydrofolate dehydrogenase | 3q21.3 | rs2305230 (Ex10-40G>T)‡ [L395L]; rs1127717 (Ex21+31A>G)† [D793G] |
| GGH | Gamma-glutamyl hydrolase | 8q12.1 | rs719236 (−423G>T)‡; rs1031552 (IVS7-3001C>T)‡ |
| MBD2 | Methyl-CpG binding domain protein 2 | 18q21 | rs7614 (Ex8+438A>G)†; rs603097 (−2176T>C)‡ |
| MGMT* | O-6-Methylguanine-DNA methyltransferase | 10q26 | rs2308321 (Ex4+13A>G)‡ [I143V]; rs2308327 (Ex4+119A>G)† [K178R]; rs12917 (Ex2-25C>T)† [L84F] |
| MLH1 | MutLhomolog 1 | 3p21.3 | rs1799977 (Ex8-23A>G)† [I219V]; rs2286940 (IVS12-169C>T)† |
| MSH2 | MutShomolog 2 | 2p22-p21 | rs4987188 (Ex6+23G>A)ठ[G322D] |
| MTHFD2 | 5,10-Methylenetetrahydrofolate dehydrogenase 2 | 2p13.1 | rs1667627 (IVS1+3323T>C)† |
| MTHFR | 5,10-Methylenetetrahydrofolate reductase | 1p36.3 | rs1801131 (Ex8-62A>C or 1298A>C)‡ [E429A]; rs1801133 (Ex5+79C>T or 677C>T)‡ [A222V] |
| MTHFS | 5,10-Methenyltetrahydrofolate synthetase (or 5-formyltetrahydrofolate cyclo-ligase) | 15q24.3 | rs622506 (IVS2-1411T>G)† |
| MTR | 5-Methyltetrahydrofolate-homocysteine methyltransferase (or methionine synthase) | 1q43 | rs1805087 (Ex26-20A>G or 2756A>G)†§ [D919G] |
| MTRR | 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase (or methionine synthase reductase) | 5p15.3-15.2 | rs161870 (Ex5+136T>C)‡ [L206L] |
| SHMT1 | Cytoplasmic serine hydroxymethyltransferase 1 | 17p11.2 | rs1979277 (Ex12+138C>T or 1420C>T)† [L435F]; rs1979276 (Ex12+236C>T)† |
| SLC19A1 | Solute carrier family 19 (folate transporter), member 1 (or reduced folate carrier 1) | 21q22.3 | rs12659 (Ex4-254C>T)† [P232P]; rs1051296 (Ex8-233T>G)† |
| TCN1 | Transcobalamin I | 11q11-q12 | rs526934 (IVS1+372T>C)† |
| TYMS | Thymidylate synthetase | 18p11.32 | rs699517 (Ex8+157C>T)‡; VNTR (Ex1+52-28base 3R>2R)‡ |
| Gene . | Enzyme/protein . | Location . | dbSNP ID [amino acid change] . |
|---|---|---|---|
| BHMT | Betaine-homocysteine methyltransferase | 5q13.1-q15 | rs585800 (Ex8+453A>T)† |
| CBS | Cystathionine-beta-synthase | 21q22.3 | rs234706 (Ex9+33C>T)‡§ [Y233Y]; rs12613 (Ex18-39IG>A)‡; rs1801181 (Ex13+41C>T)‡ [A360A] |
| FPGS | Folylpolyglutamate synthase | 9q34.1 | rs10106 (Ex15-263T>C)‡ |
| FTHFD | 10-Formyltetrahydrofolate dehydrogenase | 3q21.3 | rs2305230 (Ex10-40G>T)‡ [L395L]; rs1127717 (Ex21+31A>G)† [D793G] |
| GGH | Gamma-glutamyl hydrolase | 8q12.1 | rs719236 (−423G>T)‡; rs1031552 (IVS7-3001C>T)‡ |
| MBD2 | Methyl-CpG binding domain protein 2 | 18q21 | rs7614 (Ex8+438A>G)†; rs603097 (−2176T>C)‡ |
| MGMT* | O-6-Methylguanine-DNA methyltransferase | 10q26 | rs2308321 (Ex4+13A>G)‡ [I143V]; rs2308327 (Ex4+119A>G)† [K178R]; rs12917 (Ex2-25C>T)† [L84F] |
| MLH1 | MutLhomolog 1 | 3p21.3 | rs1799977 (Ex8-23A>G)† [I219V]; rs2286940 (IVS12-169C>T)† |
| MSH2 | MutShomolog 2 | 2p22-p21 | rs4987188 (Ex6+23G>A)ठ[G322D] |
| MTHFD2 | 5,10-Methylenetetrahydrofolate dehydrogenase 2 | 2p13.1 | rs1667627 (IVS1+3323T>C)† |
| MTHFR | 5,10-Methylenetetrahydrofolate reductase | 1p36.3 | rs1801131 (Ex8-62A>C or 1298A>C)‡ [E429A]; rs1801133 (Ex5+79C>T or 677C>T)‡ [A222V] |
| MTHFS | 5,10-Methenyltetrahydrofolate synthetase (or 5-formyltetrahydrofolate cyclo-ligase) | 15q24.3 | rs622506 (IVS2-1411T>G)† |
| MTR | 5-Methyltetrahydrofolate-homocysteine methyltransferase (or methionine synthase) | 1q43 | rs1805087 (Ex26-20A>G or 2756A>G)†§ [D919G] |
| MTRR | 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase (or methionine synthase reductase) | 5p15.3-15.2 | rs161870 (Ex5+136T>C)‡ [L206L] |
| SHMT1 | Cytoplasmic serine hydroxymethyltransferase 1 | 17p11.2 | rs1979277 (Ex12+138C>T or 1420C>T)† [L435F]; rs1979276 (Ex12+236C>T)† |
| SLC19A1 | Solute carrier family 19 (folate transporter), member 1 (or reduced folate carrier 1) | 21q22.3 | rs12659 (Ex4-254C>T)† [P232P]; rs1051296 (Ex8-233T>G)† |
| TCN1 | Transcobalamin I | 11q11-q12 | rs526934 (IVS1+372T>C)† |
| TYMS | Thymidylate synthetase | 18p11.32 | rs699517 (Ex8+157C>T)‡; VNTR (Ex1+52-28base 3R>2R)‡ |