Whole exome sequencing on eight peripheral blood samples from patients with pelvic organ prolapse (POP) identified two missense variants of WNK1. Upon validation, nine variants were detected in 11 of 161 patients with POP, whereas none of these variants were found in 231 healthy individuals, providing novel evidence of a possible pathogenetic mechanism behind POP development.
References
Rao, S. et al. Exome sequencing identifies a novel gene, WNK1, for susceptibility to pelvic organ prolapse (POP). PLoS ONE 10.1371/journal.pone.0119482
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WNK1 variants implicated in POP susceptibility. Nat Rev Urol 12, 239 (2015). https://doi.org/10.1038/nrurol.2015.63
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DOI: https://doi.org/10.1038/nrurol.2015.63
