Table 2.

Association between selected miRNA processing and miRNA binding site SNPs and EOC risk in a pooled analysis

Gene (locus)SNP (maj/min allelea)Location (putative miRs)bOR (95% CI) reported by Liang and colleagues (ref. 3)MAFcPooled OR (95% CI), adjusted for studydPPooled OR (95% CI), adjusted for study and ancestryeP
miRNA processing
 DDX20 (1p21,1-p13.2)rs197414 (C/A)fMissense0.69 (0.48,0.99)0.131.02 (0.92,1.12)0.701.04 (0.94,1.15)0.49
 DROSHA (5p13.3)rs9292427 (C/T)gIntron0.71 (0.51,0.99)0.461.01 (0.95,1.08)0.721.01 (0.94,1.08)0.79
 GEMIN4 (17p13)rs2740349 (A/C)hExon 1, ns0.70 (0.51,0.96)0.180.99 (0.92,1.09)0.971.02 (0.93,1.11)0.71
rs2740351 (T/C)iFlanks 5′UTR0.71 (0.57,0.87)0.450.98 (0.91,1.04)0.461.00 (0.94,1.07)0.98
rs7813 (T/G)iExon 1, ns0.71 (0.57,0.88)0.460.97 (0.91,1.04)0.381.00 (0.93,1.07)0.91
 XPO5 (6p21.1)rs2257082 (C/A)Exon 1, ss0.73 (0.54,0.99)0.270.99 (0.92,1.07)0.871.00 (0.93,1.08)0.95
miRNA binding sites
 CAV1 (7q31.1)rs9920 (G/A)3′UTR (miR 630)1.50 (1.04,2.17)0.101.13 (1.10,1.26)0.031.06 (0.95,1.19)0.29
 COL18A1 (21q22.3)rs7499 (G/A)3′UTR (miR-594)1.47 (1.07,2.02)0.42c0.98 (0.92,1.05)0.570.98 (0.92,1.05)0.50
 E2F2 (1p36)rs2075993 (A/C)j3′UTR (miR-663,486–3p)1.24 (1.00,1.54)0.481.01 (0.95,1.08)0.671.01 (0.94,1.08)0.87
 ILIR1 (2q12)rs3917328 (C/T)3′UTR (miR-335, 31)1.65 (1.03,2.64)0.05c1.06 (0.91,1.23)0.491.00 (0.86,1.17)0.99
 KRAS (12p12.1)rs13096 (A/G)k3′UTR (miR-1244)1.26 (1.01,1.57)0.451.00 (0.94,1.07)0.940.99 (0.93,1.06)0.85
 UGT2A3 (4q13.2)rs17147016 (T/A)h3′UTR (miR-224, 1279)1.47 (1.08,2.01)0.19c1.02 (0.93,1.11)0.701.01 (0.93,1.10)0.88

NOTE: All P values are 2-sided.

Abbreviations: US-CAN, United States-Canada; maj, major; min, minor; miR, miRNA; ns, nonsynonymous SNP; ss, synonymous SNP; MAF, minor allele frequency among all controls.

SNPinfo http://snpinfo.niehs.nih.gov/ and the PolymiRTS database (http://compbio.uthsc.edu/miRSNP/) were used to predict miRNAs whose binding activity may be altered because of the SNP location.

  • aThe major allele represents the most frequently occurring allele and serves as the reference allele during modeling.

  • bSNP location derived from Illumina annotation files, HapMap2 data (http://hapmap.ncbi.nlm.nih.gov/), and dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/).

  • cGenotype data was imputed for all participants by using MACH version 1.0.16 using phased data from HapMap release 22 (genome build 36) derived from individuals with European ancestry (CEU).

  • dPooled OR and 95% CI estimated by using a log-additive model adjusted for study (US-CAN, UK, and POL).

  • ePooled OR and 95% CI estimated by using a log-additive model adjusted for study and the first 2 PCs representing European ancestry.

  • fDDX20 rs19714 is in linkage disequilibrium (LD; r2 = 0.90) with rs197383 identified by Liang and colleagues.

  • gDROSHA rs9292427 is in LD (r2 = 0.98) with rs4867329 identified by Liang and colleagues.

  • hSNP deviates from Hardy–Weinberg Equilibrium (HWE) among all controls with PHWE values of 0.020 for rs607613, 0.040 for rs615435, 0.013 for rs2740349, 0.004 for rs3732133, and 0.034 for rs17147016, respectively.

  • iGEMIN4 SNP pair in LD (r2 = 1).

  • jE2F2 SNP pair in LD (r2 = 0.97).

  • kKRAS rs13096 is in LD (r2 = 1) with rs10771184 identified by Liang and colleagues.