Table 2.
A2ML1 genotype | Normal otoscopy | Otitis media† | Total |
---|---|---|---|
Wildtype | 27 | 22 | 49 |
Heterozygous, duplication | 17 | 36 | 53 |
Heterozygous, splice | 5 | 10 | 15 |
Compound heterozygous | 1 | 8 | 9 |
Homozygous, duplication | 3 | 5 | 8 |
Homozygous, splice | 0 | 1 | 1 |
Total with variant‡ | 26 | 60 | 86 |
Overall total | 53 | 82 | 135 |
Of 60 A2ML1 variant carriers with otitis media, 22 (36.7%) have chronic otitis media, 23 (38.3%) with healed otitis media, 14 (23.3%) with effusive otitis media, and 1 with acute otitis media based on last exam. In contrast, among 22 wildtype individuals with otitis media, 9 (40.9%) have chronic otitis media, 5 (22.7%) with healed otitis media, another 5 (22.7%) with effusive otitis media and 3 (13.6%) with acute otitis media. Fifteen of the 22 wildtype individuals with otitis media carry the FUT2 c.604C>T (p.Arg202*) variant which also plays a role in otitis media susceptibility (Santos-Cortez et al. 2018; Supp. Fig. S3).
The Fisher exact odds ratio for an A2ML1 variant carrier having otitis media is 2.8 (95%CI: 1.3, 6.2; p=0.006).