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. 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348

Table 3. Specific Susceptibility Loci and GD Risk Loci Associated With TPP by 2-Stage GWAS.

Chr and SNP BP Annotated Genes Alleles TPP Heterogeneity (TPP vs GD)
GWAS (171 vs 2160) Replication (362 vs 1089) Combined (533 vs 3249)
F_TPP F_Cons P Value OR (95% CI) F_TPP F_Cons P Value OR (95% CI) F_TPP F_Cons P Value OR (95% CI) F_TPP F_GD P Value OR (95% CI)
4q31.3 rs1352714a 155243604 DCHS2 T/C 0.22 0.14 3.69 × 10−5 1.74 (1.33-2.27) 0.19 0.14 5.03 × 10−5 1.51 (1.24-1.84) 0.20 0.14 1.24 × 10−8 1.58 (1.35-1.85) 0.20 0.15 7.01 × 10−6 1.46 (1.24-1.72)
6p21.3 rs4947296b 31058178 C6orf15 C/T 0.27 0.15 1.99 × 10−8 2.07 (1.61-2.66) 0.25 0.14 1.38 × 10−13 2.05 (1.70-2.46) 0.26 0.14 3.08 × 10−22 2.06 (1.77-2.39) 0.26 0.21 .001 1.28 (1.11-1.48)
6p21.3 rs1521b 31350704 MICA/HLA-B T/C 0.90 0.83 .001 1.80 (1.27-2.57) 0.92 0.79 4.36 × 10−16 3.04 (2.30-4.00) 0.91 0.81 3.63 × 10−18 2.51 (2.02-3.13) 0.91 0.88 .001 1.45 (1.16-1.81)
6p21.3 rs6457617b 32663851 HLA-DQB1 and HLA-DQA2 T/C 0.64 0.49 1.55 × 10−7 1.84 (1.47-2.31) 0.58 0.45 4.35 × 10−11 1.69 (1.44-1.97) 0.60 0.47 2.37 × 10−17 1.74 (1.53-1.97) 0.60 0.47 5.35 × 10−5 0.76 (0.67-0.87)
6p21.3 rs2281388b 33060118 HLA-DPB1 and COL11A2 A/G 0.48 0.33 3.80 × 10−8 1.82 (1.46-2.27) 0.46 0.33 4.00 × 10−12 1.71 (1.47-1.99) 0.46 0.33 2.46 × 10−18 1.74 (1.54-1.98) 0.46 0.44 .11 1.09 (0.96-1.24)
11q14.1 rs2186564a 77583266 C11orf67 A/G 0.25 0.16 2.40 × 10−5 1.75 (1.35-2.27) 0.22 0.17 .0008 1.37 (1.14-1.65) 0.23 0.17 2.80 × 10−7 1.50 (1.29-1.74) 0.23 0.18 .0005 1.32 (1.13-1.54)
17q24.3 rs623011a 68259446 KCNJ2 and CTD-2378E21.1 A/G 0.63 0.47 1.19 × 10−8 1.92 (1.53-2.41) 0.63 0.46 5.33 × 10−15 2.00 (1.69-2.38) 0.63 0.46 1.33 × 10−22 1.96 (1.72-2.24) 0.63 0.46 4.95 × 10−20 1.96 (1.70-2.26)
17q24.3 rs17714860a 68272354 KCNJ2 and CTD-2378E21.1 G/A 0.88 0.79 8.65 × 10−5 1.91 (1.37-2.66) 0.87 0.80 6.27 × 10−5 1.63 (1.28-2.07) 0.87 0.79 2.31 × 10−8 1.74 (1.44-2.10) 0.87 0.80 1.25 × 10−7 1.71 (1.40-2.08)
17q24.3 rs411079a 68291371 KCNJ2 and CTD-2378E21.1 C/A 0.76 0.67 .0005 1.56 (1.21-2.01) 0.77 0.67 2.11 × 10−7 1.71 (1.40-2.09) 0.77 0.67 1.26 × 10−10 1.64 (1.40-1.91) 0.77 0.67 5.24 × 10−11 1.69 (1.44-1.99)
17q24.3 rs312729a 68306837 KCNJ2 and CTD-2378E21.1 A/G 0.64 0.47 2.54 × 10−10 2.05 (1.63-2.57) 0.65 0.47 8.75 × 10−20 2.11 (1.79-2.48) 0.65 0.47 8.02 × 10−29 2.08 (1.83-2.38) 0.65 0.47 3.12 × 10−27 2.10 (1.84-2.40)
17q24.3 rs312691a 68326338 CTD-2378E21.1 C/T 0.64 0.46 1.49 × 10−10 2.06 (1.64-2.59) 0.63 0.46 1.31 × 10−14 1.99 (1.67-2.37) 0.63 0.46 6.08 × 10−24 2.02 (1.77-2.31) 0.63 0.45 7.02 × 10−24 2.08 (1.81-2.39)
17q24.3 rs12451295a 68376823 CTD-2378E21.1 and SOX9 C/T 0.63 0.50 3.36 × 10−6 1.70 (1.36-2.13) 0.6 0.48 1.32 × 10−8 1.63 (1.38-1.94) 0.61 0.49 2.41 × 10−13 1.61 (1.41-1.84) 0.61 0.48 3.91 × 10−12 1.64 (1.43-1.89)
17q24.3 rs16975792a 68433725 CTD-2378E21.1 and SOX9 G/A 0.67 0.57 .0004 1.51 (1.20-1.91) 0.66 0.57 2.42 × 10−5 1.46 (1.22-1.73) 0.66 0.57 4.04 × 10−8 1.46 (1.27-1.67) 0.66 0.56 2.81 × 10−8 1.50 (1.30-1.73)
Xq21.1 rs5912838b 78497118 ITM2A A/C 0.68 0.58 .002 1.50 (1.10-2.07) 0.70 0.58 1.31 × 10−5 1.68 (1.36-2.07) 0.69 0.58 5.91 × 10−8 1.62 (1.36-1.93) 0.69 0.64 .44 1.25 (1.05-1.49)

Abbreviations: BP, base position; Chr, chromosome; Cons, controls; F, minor allele frequency; GD, Graves disease; GWAS, genome-wide association study; OR, odds ratio; SNP, single-nucleotide polymorphism; TPP, thyrotoxic periodic paralysis.

a

For the specific SNPs associated with TPP, the heterogeneity analysis were performed in the total of 533 patients with TPP and 1404 patients with GD.

b

For the 5 SNPs associated with GD in the previous study, the heterogeneity analysis was performed in the total of 533 patients with TPP and 5160 patients with GD.