Rare genetic variants suggest dysregulation of signaling pathways in low- and high-risk patients developing severe ovarian hyperstimulation syndrome.

ABSTRACT:

Purpose

To investigate if rare gene variants in women with severe ovarian hyperstimulation syndrome (OHSS) provide clues to the mechanisms involved in the syndrome.

Methods

Among participants in a prospective randomized study (Toftager et al. 2016), six women with predicted low and six women with predicted high risk of OHSS developing severe OHSS (grades 4 and 5, Golan classification) were selected. In the same cohort, six plus six matched controls developing no signs of OHSS (Golan grade 0) were selected. Whole-exome sequencing was performed. Analysis using a predefined in silico OHSS gene panel, variant filtering, and pathway analyses was done.

Results

We found no convincing monogenetic association with the development of OHSS using the in silico gene panel. Pathway

SUBMITTER: Borgwardt L 

PROVIDER: S-EPMC7642034 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature