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. 2020 May 6;5(8):1–10. doi: 10.1001/jamacardio.2020.0872

Table 2. Association Results for Index Markers.

SNV Locus Risk allele Discovery Replication Meta-analysis Candidate genes
RAF in cases/controls OR (95% CI) P value q Value RAF cases/controls OR (95% CI) P value OR (95% CI) P value
rs4970935 (I) 1q21.3 C 0.37/0.25 1.78 (1.51-2.09) 2.63 × 10−12 3.63 × 10−7 0.40/0.26 1.74 (1.34-2.26) 3.37 × 10−5 1.77 (1.54-2.03) 3.26 × 10−16 ECM1,a,c C1orf54,b,d ADAMTSL4,a,c and MRPS21b,c
rs9349379 (G) 6p24.1 A 0.73/0.59 1.77 (1.51-2.09) 7.09 × 10−12 8.73 × 10−7 0.70/0.60 1.57 (1.20-2.06) 9.90 × 10−4 1.71 (1.49-1.97) 4.59 × 10−14 PHACTR1a,c,d
rs11172113 (G) 12q13.3 T 0.71/0.59 1.67 (1.42-1.97) 3.62 × 10−10 3.26 × 10−5 0.71/0.58 1.75 (1.33-2.31) 6.82 × 10−5 1.69 (1.47-1.94) 1.42 × 10−13 LRP1a,c,d
rs67049921 (I) 16q24.1 G 0.90/0.83 1.91 (1.49-2.44) 2.56 × 10−7 5.21 × 10−3 0.84/0.84 0.96 (0.69-1.35) 0.83 1.51 (1.23-1.84) 5.40 × 10−5 NA
rs6700122 (I) 1q24.2 T 0.11/0.06 2.10 (1.58-2.79) 2.88 × 10−7 5.43 × 10−3 0.11/0.09 1.25 (0.83-1.88) 0.28 1.77 (1.41-2.24) 1.40 × 10−6 NA
rs28451064 (I) 21q22.11 G 0.93/0.86 2.11 (1.59-2.82) 3.12 × 10−7 5.75 × 10−3 0.95/0.88 2.44 (1.45-4.09) 7.61 × 10−4 2.18 (1.70-2.81) 1.09 × 10−9 LINC00310a,d
rs189056 (I) 3q22.3 A 0.45/0.36 1.47 (1.26-1.71) 6.65 × 10−7 8.98 × 10−3 0.43/0.41 1.06 (0.82-1.37) 0.65 1.35 (1.18-1.54) 7.53 × 10−6 NA
rs2015637 (I) 15q21.1 C 0.16/0.10 1.75 (1.40-2.18) 7.23 × 10−7 9.71 × 10−3 0.18/0.10 1.91 (1.31-2.78) 7.02 × 10−4 1.79 (1.48-2.17) 2.12 × 10−9 FBN1a,d
rs10095937 (I) 8q24.3 G 0.06/0.02 2.57 (1.76-3.75) 9.65 × 10−7 0.01 0.04/0.04 0.87 (0.46-1.68) 0.69 1.96 (1.41-2.71) 5.74 × 10−5 NA
rs79603310 (I) 4q34.3 C 0.14/0.08 1.84 (1.44-2.35) 9.8 × 10−7 0.01 0.12/0.13 0.94 (0.64-1.38) 0.74 1.52 (1.24-1.87) 7.32 × 10−5 NA

Abbreviations: G, genotyped; I, imputed; OR, odds ratio; RAF, risk allele frequency; SNV, single-nucleotide variation.

a

Gene nearest to the index SNV.

b

Gene overlapping SNV within strong linkage disequilibrium (r2>0.8) of index SNV.

c

Expression quantitative trait locus target gene for the index SNV.

d

Gene ranked in the top 5 for coronary artery, aorta, or tibial artery expression.