AQP1 was shown to lead to pulmonary arterial hypertension (PAH), albeit with a limited disease relationship. At this point in time only missense variants were considered as the mode of action since knock out mouse models of AQP1 lead to attenuated pulmonary hypertension. Therefore, only missense variants were counted as case-level evidence (0.3 points, Wang et al. 2019). In addition, 3 points were added from the original gene discovery publication as case-control data (Gräf et al. 2018). The authors identified AQP1 by a SKAT-O test comparing the whole genome sequences from 838 PAH patients without mutations in other known PAH genes to 6385 control sequences. Expression data from the same work was scored with 0.5 points as AQP1 was shown to be expressed in healthy lung and plexiform lesions within pulmonary arteries from PAH patients.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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