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. 2021 Mar 5;17(3):e1009254. doi: 10.1371/journal.pgen.1009254

Table 2. Novel genomic regions with pleiotropic aerodigestive SqCC associations.

Regiona EA/OAb Gene EAF SqCC site OR 95%CI P ORmeta 95%CImeta Pmeta c
Genome-wide significant loci
2q33.1 A/G TMEM237 0.31 Lung 0.92 0.88–0.96 2.51E-04 0.902 0.87–0.94 6.99E-09
rs56321285 Oral/oropharynx 0.89 0.83–0.94 2.34E-04
2:202505545 Larynx 0.79 0.67–0.93 3.83E-03
Esophagus 0.8 0.64–0.98 3.56E-02
Suggestive loci
1q32.1 G/T MDM4 0.35 Lung 1.07 1.03–1.11 4.63E-04 1.08 1.05–1.12 2.16E-07
rs12133735 Oral/oropharynx 1.14 1.08–1.21 9.82E-06
1:204556836 Larynx 1.05 0.92–1.20 5.14E-01
Esophagus 1 0.83–1.19 9.74E-01
5q31.2 G/A TMEM173 0.28 Lung 1.09 1.05–1.14 5.29E-05 1.09 1.05–1.13 1.74E-07
rs13181561 Oral/oropharynx 1.1 1.04–1.17 1.74E-03
5:138850905 Larynx 1.12 0.96–1.3 1.44E-01
Esophagus 1.06 0.87–1.3 5.62E-01
19p13.11 A/G ABHD8 0.3 Lung 1.09 1.05–1.14 2.05E-05 1.09 1.05–1.12 9.86E-08
rs61494113 Oral/oropharynx 1.09 1.03–1.16 4.91E-03
19:17401859 Larynx 1.15 1.00–1.31 5.22E-02
Esophagus 1.05 0.87–1.27 5.90E-01

a Lead SNP (lowest P, F-E meta-analysis), regions at P<5x10-7

b EA = Effect allele/OA = other allele; EAF = average effect allele frequency between sites.

c F-E meta-analysis (ASSET) accounting for control overlap between Lung SCC and oral/pharynx analysis and larynx and esophageal analysis.