More recently, a genome-wide association study of 11,744 European individuals (2,085 patients) identified 2 independent risk variant-containing signals (Sox17-signal 1 and Sox17-signal 2) in an enhancer region (Figure 5) near SOX17 that were associated with PAH despite the relatively rare prevalence of mutations in the coding region of the SOX17 gene itself—implicating a more common causative role for Sox17 in PAH development than previous thought (39). Here, SOX17 is linked to pulmonary arterial hypertension.