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.