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. 2018 Jun 12;38(3):BSR20171688. doi: 10.1042/BSR20171688

Table 1. Replication results on three SNPs in ADD3 in Southern Han Chinese population using 510 cases and 1473 controls.

SNP CHR Gene Left_gene Right_gene Cheng et al. (Hepatology, 2013) [8] BP A1/A2 Cases Controls OR (CI 0.95) P P_adj
P_hwe=0.55
rs17095355 10 NA XPNPEP1 ADD3 MAF case/control): 0.54/0.39 109975992 T/C 461/483 1212/1680 1.33 (1.15 ∼1.54) 1.60E-04 1.20E-04
OR: 1.83 (1.45–2.31) ADD - - 1.34 (1.15∼1.56) 1.50E-04 2.58E-04
RISK allele: T DOM 358/114 964/482 1.58 (1.24∼2.00) 1.70E-04 2.27E-04
P-value: 5.32E-06 REC 103/369 248/1198 1.35 (1.04∼1.75) 0.02 0.03
P_hwe=0.53
rs10509906 10 NA XPNPEP1 ADD3 MAF (case/control): 0.14/0.23 109997916 C/G 200/786 610/2294 0.95 (0.79 ∼1.14) 0.58 0.53
OR: 0.52 (0.38–0.71) ADD - - 0.96 (0.80∼1.15) 0.64 0.75
RISK allele: G DOM 183/310 542/910 0.99 (0.80∼1.22) 0.92 1
P value: 4.91E-05 REC 17/476 68/1384 0.75 (0.43∼1.28) 0.29 0.26
P_hwe=0.87
rs2501577 10 ADD3 XPNPEP1 MXI1 *MAF (case/control): 0.54/0.42 110086929 G/A 461/479 1237/1671 1.31 (1.13 ∼1.51) 3.60E-04 4.03E-04
OR: 1.61 (1.28–2.03) ADD - - 1.30 (1.12∼1.51) 5.30E-04 4.29E-04
RISK allele: G DOM 357/113 972/482 1.57 (1.24∼2.00) 2.10E-04 2.17E-04
P-value: 8.28E-05 REC 104/366 265/1189 1.26 (0.98∼1.63) 0.07 0.06

A1/A2 indicate the risk allele and protective allele to disease. F_A/F_U indicates risk allele frequency of the SNP in cases or controls. The P-value indicates the significance based on allelic association tests. The calculation of OR is also based on the risk allele of each SNP. Abbreviations: BP, base pair where the SNP is located; CHR, chromosome; Gene.refgene, the gene where the SNP is located at; OR, odds ratio.

*

Shows the association of rs2501575 which is in full LD (r2 = 1) with rs2501577 in Chinese.