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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