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. 2022 Jun 15;27(9):3875–3884. doi: 10.1038/s41380-022-01624-5

Table 2.

GWAS meta-analysis of DNAmTL derived from participants of European Ancestry and African Ancestry.

SNP CHR BP Effect allelea META EA AA Gene or nearest gene
BETA (EFFECT) Meta P-value P (I2) MAF (MA) Association P-value MAF(MA) Association P-value
Genotyped SNPs (p < 1 × 10−5)
rs4374022 12 55,373,780 C −0.058 3.87E−08 0.81(0) 0.22(T) 0.00014 0.48 (T) 0.00012 TESPA1
rs3759165 12 55,367,715 C −0.054 2.23E−07 0.63 (0) 0.22 (T) 0.00016 0.46 (C) 0.0005 TESPA1
rs2147317 1 68,990,012 C −0.052 1.17E−06 0.65 (0) 0.35 (C) 0.00058 0.25 (C) 0.00072 DEPDC1-AS1
rs8128746 21 19,656,171 C −0.049 1.84E−06 0.61 (0) 0.43 (C) 9.24E-05 0.28 (C) 0.0073 TMPRSS15
rs7297842 12 55,404,523 A −0.050 3.25E−06 0.36 (0) 0.21 (G) 0.00017 0.47 (A) 0.0051 TESPA1; NEUROD4
rs842192 1 1.78E + 08 C −0.055 4.47E−06 0.99 (0) 0.13 (A) 0.0082 0.34 (A) 0.0002 SEC16B
rs3776566 5 36,631,733 G −0.061 5.48E−06 0.75 (0) 0.05 (T) 0.02 0.29 (T) 0.0001 SLC1A3
rs6682188 1 68,984,394 T −0.055 5.79E−06 0.65 (0) 0.18 (T) 0.0026 0.21 (T) 0.0008 DEPDC1-AS1
rs17082453 4 54,011,603 T −0.109 5.84E−06 0.57 (0) 0.07 (T) 0.00072 0.03 (T) 0.0027 SCFD2
rs7259473 19 39,493,010 G −0.045 7.31E−06 0.63 (0) 0.49 (G) 0.0026 0.33 (G) 0.001 FBXO17;FBXO27
rs3851604 12 55,381,991 G −0.049 7.33E−06 0.30 (6.1) 0.21 (A) 0.00017 0.45 (A) 0.01 TESPA1;NEUROD4
rs2477083 1 68,921,521 G −0.055 7.56E−06 0.55 (0) 0.14 (G) 0.00039 0.23 (G) 0.006 RPE65;DEPDC1
rs4738003 8 70,542,552 C −0.045 7.77E−06 0.70 (0) 0.48 (C) 0.00038 0.31 (C) 0.0077 SULF1
rs2555454 2 64,522,307 A −0.054 8.23E−06 0.12 (58.4) 0.31 (A) 0.0055 0.12 (A) 0.00018 LOC100507006; MIR4433B
rs7978952 12 55,397,643 T −0.047 9.44E−06 0.27 (18.9) 0.22 (C) 0.00015 0.39 (T) 0.014 TESPA1;NEUROD4
Imputed SNPs (p < 5 × 10−8\)
rs1408065 6 133,192,978 A −0.071 4.49E−08 0.51(0) 0.24(A) 5.56E-07 0.08(A) 0.04293 RPS12;LINC00326
rs7973023 12 55,357,264 C −0.059 1.95E−08 0.59(0) 0.23(T) 3.53E-05 0.47(C) 0.000204 TESPA1
rs7973141 12 55,357,382 C −0.059 2.24E−08 0.65(0) 0.23(T) 5.03E-05 0.47(C) 0.000171 TESPA1
rs7973347 12 55,357,387 G −0.059 2.24E−08 0.65(0) 0.23(C) 5.03E-05 0.47(G) 0.000171 TESPA1
rs12301448 12 55,358,691 T −0.058 2.76E−08 0.60(0) 0.23(C) 4.91E-05 0.46(T) 0.000207 TESPA1
rs1532052 12 55,361,314 A −0.058 2.03E−08 0.70(0) 0.23(G) 6.94E-05 0.46(A) 0.000115 TESPA1
rs10783706 12 55,362,002 G −0.058 2.45E−08 0.81(0) 0.23(A) 0.000118 0.46(G) 8.51E−05 TESPA1
rs10876674 12 55,362,156 C −0.057 4.60E−08 0.75(0) 0.23(T) 0.000118 0.46(C) 0.000153 TESPA1
rs10876678 12 55,369,024 A −0.059 2.07E−08 0.98(0) 0.24(G) 0.000163 0.47(G) 5.43E−05 TESPA1
rs1565170 12 55,369,858 C −0.061 7.29E−09 0.96(0) 0.23(T) 0.000118 0.44(T) 2.72E−05 TESPA1
rs1565171 12 55,369,960 C −0.061 7.29E−09 0.96(0) 0.23(A) 0.000118 0.44(A) 2.72E−05 TESPA1
rs1565172 12 55,370,164 C −0.061 7.29E−09 0.96(0) 0.23(T) 0.000118 0.44(T) 2.72E−05 TESPA1
rs7314905 12 55,370,782 G −0.058 4.71E−08 0.80(0) 0.23(C) 0.000135 0.47(C) 0.000141 TESPA1
rs7314940 12 55,370,948 C −0.059 3.39E−08 0.88(0) 0.23(T) 0.000135 0.42(T) 0.000104 TESPA1
rs10876679 12 55,371,263 C −0.061 8.56E−09 0.96(0) 0.23(A) 0.000135 0.43(A) 2.80E−05 TESPA1
rs7315419 12 55,371,307 C −0.061 8.53E−09 0.96(0) 0.23(G) 0.000135 0.43(G) 2.78E−05 TESPA1
rs2046686 12 55,371,671 C −0.061 8.53E−09 0.96(0) 0.23(T) 0.000135 0.43(T) 2.78E−05 TESPA1
rs11171205 12 55,372,239 A −0.058 4.71E−08 0.80(0) 0.23(G) 0.000135 0.47(G) 0.000141 TESPA1
rs1488039 12 55,373,112 G −0.058 4.71E−08 0.80(0) 0.23(A) 0.000135 0.47(A) 0.000141 TESPA1

EA European Ancestry participants, AA Africa Ancestry participants, META GWAS meta-analysis, CHR chromosome, BP base pair (physical location) on genome (hg19), MAF minor allele frequency, P-value present refers to association test with EAA. I2 (P) heterogeneity index with P-value, TESPA1 Thymocyte Expressed, Positive Selection Associated 1, SLC1A3 solute carrier family 1 member 3, DEPDC1-AS1 DEP Domain Containing 1-Antisense RNA 1, TMPRSS15 Transmembrane Serine Protease 15, SULF1 Sulfatase 1, NPHP3 Nephrocystin 3, ACAD11 Acyl-CoA Dehydrogenase Family Member 11, SEC16B SEC16 Homolog B, Endoplasmic Reticulum Export Factor, SCFD2 Sec1 Family Domain Containing.

aEffect Allele corresponds to the effect size’s sign; it may not be the minor allele.