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Table 1 Included SNPs and action and location of involved miRNA biogenesis genes

From: Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study

Geneb SNP IDa Active Loc.d Process
ADAR rs11264222, rs1127309, rs1127313, rs1127314, rs1127317, rs2131902, rs2229857, rs2335230, rs3766925, rs376692, rs4845384 N Pre-miRNA Editing
AGO1 rs636832, rs11584005f, rs595055c C miRISC Formation/Loading
AGO2 rs10087629, rs1060832, rs11166984, rs11166985, rs13276958, rs1878478, rs2176397, rs2271735, rs2292775, rs2292780, rs2293939, rs2944761, rs2944767, rs2944776, rs2977469, rs2977477, rs2977490, rs3735805, rs3864659, rs3928672, rs4961278, rs6985156, rs7009635, rs7824304, rs7843258, rs7460a, rs2944760
AGO3 rs10796876, rs274732, rs4351606
AGO4 rs12044203, rs12119583
BMP2 rs15705, rs2273073, rs235768, rs3178250 N Recruitment of SMAD/Enhancement of Drosha
BMP3 rs3733549
BMP4 rs17563, rs76335800f
BMP6 rs1043784, rs1044104, rs7764128, rs9505298
DCP1B rs2240610, rs6489338 C Localization with AGO & P-bodies/mRNA Decapping for Degradation
DDX10 rs10890898, rs2726920 C Pre-miRNA Unwinding/Possible Drosha Processing Enhancement. DDX5-DDX17 Required for Recognition of pri-miRNA By Drosha.
DDX11 rs1808348, rs2075321, rs7953706, rs9750
DDX13 (SKIV2L) rs437179 (rs438999, rs449643 only SKIV2L)
DDX20 rs11584657, rs197381a, rs197392, rs197412, rs197414, rs538779
DDX5 (p68) rs1991401, rs1140409
DGCR8 rs11089328, rs1558496, rs1640297, rs17817767, rs2073778, rs2286926, rs2286928, rs41281429, rs417309, rs9606248 N Pri-miRNA Cleavage
DHX15 rs6841898 C May Interact with AGO1/2, Dicer, TRBP/Facilitate mi/siRNA Loading (DHX6,9).
DHX16 rs3130000
DICER1 rs10149095, rs1057035, rs11160231, rs11622643, rs11624081, rs1209904, rs12323635, rs12897280, rs13078, rs17091855, rs3742330, rs4513027, rs1110386, rs11621737 C Pre-miRNA Cleavage
DROSHA rs10052174, rs10067066, rs10068052, rs10719, rs11748548, rs13169883, rs13183642, rs16901109, rs16901165, rs17408227, rs17408716, rs17409624, rs17409803, rs17410035, rs17485323, rs2279797, rs2287584, rs3792830, rs3805525, rs4867329f, rs4867339, rs493760, rs524138, rs573010, rs639174, rs6450848, rs673019, rs6878195, rs6884823, rs7447423, rs7712155, rs7712436, rs7719666, rs13175906a, rs2330696a, rs6883386a, rs7702984f N Pri-miRNA Cleavage
FMR1 rs25704f C P-bodies and mRNA Degradation
GEMIN4 rs1045481, rs1062923, rs2251689, rs2291778, rs2740348, rs2740349, rs3744741, rs7813, rs28685132f, rs2740351 C miRNA Duplex Unwinding (miRISC formation)
GSK3β rs3732361, rs56728675, rs60393216 C Drosha Phosphorylation/Stabilization
LIN28 rs11247946, rs11587947a N Recruites ZCCHC11 to miRNA for Uridylation
LIN28A rs12741800a, rs12728900, rs6598964, rs6697410
LIN28B rs12194974, rs17065417 Microprocessor Regulation
MAP3K19 rs13390171f, rs1551497f, rs2322254f C TRBP Phosphorylation/Stabilization
MAPK1 rs13515, rs2283792, rs6928, rs7286558, rs743409, rs8136867, rs9607272
MAPK14 rs3804452, rs8510
MAPK3 rs11865086
MAPKAPK2 rs4240847, rs4548444, rs45514798
MOV10 rs2932538 C miRNA Duplex Unwinding (miRISC formation)
p38 (CRK) rs1083 N AGO2 Phosphorylation/P-body Localization
p38 (GRAP) rs138011, rs138012
p54 (FKBP5) rs3800373, rs755658 C Localization with P-bodies/mRNA Degradation and/or Storage
p54 (IFIT2) rs17468739, rs2070845
rs11061209
PACT (PRKRA) rs2059691, rs1967327, rs10207436e N Associates with Dicer; Role Undetermined
PACT (RBBP6) rs11860248, rs2033214, rs7195386
RAN rs10848237, rs14035, rs3809142, rs10773831 Both Ran-GTP Associates with XPO5 for Export
SMAD4 rs948588 N Drosha Processing Enhancement
TGFB1 rs1800468, rs1800470f, rs1800471, rs1800472 N Recruitment of SMAD/Enhancement of Drosha
TNRC6A (GW182) rs1030211, rs11639856, rs11642302, rs11644976, rs12917810, rs1633445, rs2303085, rs4788430, rs6497755, C P-bodies and mRNA Degradation
TNRC6B rs7291691a
TRBP (NCOA6) rs4911442, rs6088619, rs910871 C Pre-miRNA Cleavage
TRBP (NPFF) rs8192593
TRBP (TARBP2) rs34649330, rs784567
XPO5 rs1106841, rs11077, rs17287964, rs2257082, rs699937, rs7755135 Both Nuclear Export of Pre-miRNA to Cytoplasm
ZCCHC11 (TUT4) rs2274147, rs835036 C Uridylation of Pre-miRNA/Dicer Inhibition
  1. a Related SNPs are those in high linkage disequilibrium (rb > 0.8). These are: rs7460 (rs11996715); rs197381 (rs197383); rs13175906 (rs13186629); rs2330696 (rs6450839); rs6883386 (rs2161006, rs17404622); rs11587947 (rs11581746); rs12741800 (rs3811463); rs7291691 (rs9623117)
  2. b Some of these genes reflect actual location (SNP is within gene), others reflect literature associations
  3. c AGO genes are also known by EIF2C (i.e.AGO1 is also known by EIF2C1, etc.…)
  4. d N: Nucleus; C: Cytoplasm
  5. edbSNP lists this SNP’s position as LOC101927027; it is associated in the literature with PRKRA in the literature (falling within an accepted range of PRKRA)
  6. f These SNPs were either not evaluated for association with CRC due to unavailability of GWAS data