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. Author manuscript; available in PMC: 2020 Aug 1.
Published in final edited form as: Hum Mutat. 2019 May 21;40(8):1156–1171. doi: 10.1002/humu.23769

Table 2.

A2ML1 Genotypes and Otitis Media Status for 135 Indigenous Filipinos

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).