Evaluation of polygenic risk scores for hormones and receptors levels in patients with vestibulodynia: a case–control study.

This article focuses on a case–control study investigating the genetic predisposition to hormone and receptor levels in vestibulodynia (VBD), a subtype of vulvodynia characterized by chronic vulvar pain. Using shallow whole genome sequencing and polygenic risk scores (PRS) derived from genome-wide association study (GWAS) data, the study compared 29 women with VBD to 27 healthy controls, assessing clinical phenotypes such as vestibular mucosa thickness, pelvic floor tone, and pain sensitivity. Results indicated that women with VBD have a genomic predisposition to higher levels of membrane-associated progesterone receptor component 1 and showed correlations between PRS for hormones like prolactin, estrogen receptor, and testosterone with clinical measures of vestibular sensitivity and tissue thickness. The findings suggest that integrating PRS with clinical data may enhance early diagnosis and personalized treatment of VBD, though the study’s applicability is currently limited to European ancestry populations and requires validation in larger cohorts.