Aim: To determine if there is an association between ABO variants or blood types and otitis media. Methods: DNA samples from 214 probands from Finnish families with recurrent acute (RAOM) and/or chronic otitis media with effusion (COME) were submitted for exome sequencing. Fisher exact tests were performed when (a) comparing frequencies of ABO genotypes in the Finnish probands with otitis media vs. counts in gnomAD Finnish, and (b) within the Finnish family cohort, comparing occurrence of RAOM vs. COME according to ABO genotype/haplotype and predicted blood type. Results: Female sex is protective against having both RAOM and COME. The wildtype genotype for the ABO c.260insG (p.Val87_Thr88fs*) variant resulting in blood type O was protective against RAOM. On the other hand, type A was associated with increased risk for COME. These findings remained significant after adjustment for age and sex. Conclusions: Within the Finnish family cohort, the wildtype genotype for the ABO c.260insG (p.Val87_Thr88fs*) variant and type O are protective against RAOM while type A increases risk for COME. This suggests that the association between the ABO locus and otitis media is specific to blood type, otitis media type and cohort.

中文翻译：

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ABO基因型和血型与中耳炎有关。

目的：确定ABO变体或血型与中耳炎之间是否存在关联。方法：将来自芬兰的214位先证者的DNA样本进行外显子组测序，这些先证者来自复发性急性（RAOM）和/或慢性渗出性中耳炎（COME）的芬兰家庭。当（a）比较带有中耳炎的芬兰先证者中ABO基因型的频率与gnomAD Finnish中的计数时，以及（b）芬兰家庭队列中根据ABO基因型/比较RAOM和COME的发生率，进行Fisher精确检验。单倍型和预测的血型。结果：女性可以避免同时患有RAOM和COME。导致O型血的ABO c.260insG（p.Val87_Thr88fs *）变体的野生型基因型对RAOM具有保护作用。另一方面，A型与COME风险增加相关。调整年龄和性别后，这些发现仍然很重要。结论：在芬兰家族队列中，ABO c.260insG（p.Val87_Thr88fs *）和O型的野生型基因型可防止RAOM，而A型则增加了COME的风险。这表明ABO基因座和中耳炎之间的关联是特定于血型，中耳炎类型和队列的。