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. Author manuscript; available in PMC: 2012 Oct 1.
Published in final edited form as: Pharmacogenet Genomics. 2011 Oct;21(10):679–686. doi: 10.1097/FPC.0b013e328343dd93

Table 2.

Additional candidate genes and variants for methotrexate pharmacogenomics

Gene Studied variants (rs) PMIDs
ABCB1 3435C>T (rs1045642),
1236 C>T (rs1128503)		 19093297 [48], 20386493a[46],
18381794 [12], 20136356 [49]
ABCC1 Arg723Gln (rs4148356),
rs3784862,
Ala1337Thr (rs28364006),
4002 G>A (rs2230671),
IVS 14+115C>T,
IVS 18-30C>G (rs2074087)		 16041243 [50], 18381794a[12],
20386493 [46], 18256692 [51]
ABCC2 1249 G>A (rs2273697),
IVS23+56C>T (rs4148396)		 18381794 [12], 20386493 [46]
ABCC3 11585759b[52], 19996279b[53]
ABCC4 934A>C (rs2274407),
−1393T>C		 19515727 [54]
ABCG2 914C>A (rs2231142),
rs17731538		 20386493 [46], 12208758b[55],
 12874005b[56]
ADA Val178Val (rs244076),
IVS 2 C/G (rs1799880)		 19902562 [57]
ADORA1 rs16851020,
rs3766553,
rs3766554,
rs17530497,
rs4423076,
rs1845466,
rs3753475,
rs10800901,
rs10920574,
rs7549561,
rs6427993,
rs6701725,
rs12123037,
rs1494487,
rs3898276		 9214432b[58], 18256692a[51]
ADORA2A 1976T>C (rs5751876),
rs5760410,
rs2298383,
rs3761422,
rs2267076,
rs2236624,
rs9624472,
rs4822489		 18539621 [59], 19902562 [57]
ADORA3 19790066 [60], 17922624 [61]
AMPD1 34C>T (rs17602729) 16947783 [62], 19902562a[57],
20386493 [46]
ATIC 347C>G (rs2372536)
rs4673993		 19902562a[57], 16947783 [62],
19016697a[26], 20386493a[46],
19193698 [63]
CBS 844ins68 14647408a[21], 16013960 [64]
CCND1 870A>G (rs9344) 12972956 [44], 16870553 [7],
18096764 [45]
DHFR 35289A>G (rs1232027),
−473T>C (rs1650697),
308G > A (rs1105525),
rs7387		 20472929 [13], 19861437 [65],
18096764 [45], 19902562 [57],
20136356a[49]
FOLH1 1561C>T 12204797a[66]
FOLR1 19493312b[67], 19093297a[48]
FPGS rs1544105 19902562 [57], 19093297a[48]
GART 15142881b[68]
GGH 452C>T (rs11545078)
−401T>C (rs3758149)
16T>C (rs1800909)		 20386493a[46], 16999998 [69],
19827168 [32], 15564880 [70],
17286537 [71]
GSTM1 Null 17180579 [39], 15713801 [29]
HPRT1 12429535b[72]
HLA-G 14bp in/del 16906016 [73], 17626975 [74],
19088262a[75], 20136356a[49]
IMPDH2 +787C>T 20136356a[49]
ITPA 94C>A (rs41320251),
IVS2 +21A>C (rs7270101)		 16947783 [62], 17530705 [76],
19193698a[63], 20136356a[49]
MTHFD1 1958G>A (rs2236225) 14647408 [21], 15797993a[77],
17530705 [76], 20386493a[46]
MTHFR 1793G>A (rs2274976),
rs2066462		 20863444 [18]
MTHFS 3801490b[78]
MTR 2756A>G (rs1805087) 20386493a[46], 19159907 [79],
18322994 [42], 17855192 [80],
17611986 [81]
MTRR 66A>G (rs1801394) 20386493a[46], 15797993 [77],
18368069 [28]
NOS3 894G>T (rs1799983) 14647408 [21], 16013960 [64]
NP 12429535b[72]
PPAT 14529544b[82]
SHMT1 1420C>T (rs1979277) 20386493 [46], 18368069 [28],
15797993 [77]
SLC22A11 11327718b[83]
SLC22A6 20460822b[84]
SLC22A8 20460822b[84]
SLC46A1 19403800b[85]
SLCO1B1 rs11045879,
rs4149081		 19901119 [4]
SLCO1A2 Glu172Asp (rs11568563),
Arg168Cys (rs11568564),
Asn277DEL (rs72559749)		 16702441b[86]
TGFB1 869T>C (rs1982073) 20136356a[49]
TLR4 896A>G (rs4986790) 20136356 [49]
TYMS 1494del (TTAAAG) 18381794 [12], 16130010 [87]

Annotations are available in full at http://www.pharmgkb.org/do/serve?objCls=Drug&objId=PA450428&tabType=tabGenetics#tabview=tab2.

PMID, PubMed identifier.

a

No association.

b

In-vitro study, (a) folate only, not methotrexate.