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Applicability of polygenic risk scores in endometriosis clinical presentation

Svensson, Agnes LU orcid ; Garcia-Etxebarria, Koldo ; Åkesson, Anna ; Borgfeldt, Christer LU ; Roth, Bodil LU ; Ek, Malin LU ; D’Amato, Mauro and Ohlsson, Bodil LU (2022) In BMC Women's Health 22(1).
Abstract

Background: Risk prediction is an essential part of preventative medicine and in recent years genomic information has become an interesting factor in risk models. Polygenic risk scores (PRS) combine the effect of many genetic variations into a single score which has been shown to have predictive value for many diseases. This study aimed to investigate the association between PRS for endometriosis and the clinical presentation of the disease. Methods: Women with endometriosis (N = 172) were identified at the Department of Gynecology. All participants answered questionnaires regarding sociodemographic factors, lifestyle habits and medical history, registered bowel symptoms on the Visual Analog Scale for Irritable Bowel Syndrome and passed... (More)

Background: Risk prediction is an essential part of preventative medicine and in recent years genomic information has become an interesting factor in risk models. Polygenic risk scores (PRS) combine the effect of many genetic variations into a single score which has been shown to have predictive value for many diseases. This study aimed to investigate the association between PRS for endometriosis and the clinical presentation of the disease. Methods: Women with endometriosis (N = 172) were identified at the Department of Gynecology. All participants answered questionnaires regarding sociodemographic factors, lifestyle habits and medical history, registered bowel symptoms on the Visual Analog Scale for Irritable Bowel Syndrome and passed blood samples. DNA was extracted and samples were genotyped, and a PRS was calculated based on previous genome-wide association studies of endometriosis. Inflammatory proteins and TSH receptor antibodies (TRAb) in serum were analyzed. Results: Inverse associations were identified between PRS and spread of endometriosis, involvement of the gastrointestinal tract and hormone treatment. However, significance was lost when calculated as p for trend and the specificity and sensitivity were low. There were no correlations between PRS and TRAb or inflammatory proteins. Conclusion: The findings indicate that specific PRS should be developed to predict clinical presentations in patient with endometriosis.

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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Endometriosis, Gastrointestinal symptoms, Genetics, Inflammatory proteins, Polygenic risk score
in
BMC Women's Health
volume
22
issue
1
article number
208
publisher
BioMed Central (BMC)
external identifiers
  • pmid:35659226
  • scopus:85131650000
ISSN
1472-6874
DOI
10.1186/s12905-022-01788-w
language
English
LU publication?
yes
id
4965b8ee-f918-4cbe-bdf3-ec7f6b3c60b9
date added to LUP
2022-09-20 14:07:51
date last changed
2024-04-04 12:07:18
@article{4965b8ee-f918-4cbe-bdf3-ec7f6b3c60b9,
  abstract     = {{<p>Background: Risk prediction is an essential part of preventative medicine and in recent years genomic information has become an interesting factor in risk models. Polygenic risk scores (PRS) combine the effect of many genetic variations into a single score which has been shown to have predictive value for many diseases. This study aimed to investigate the association between PRS for endometriosis and the clinical presentation of the disease. Methods: Women with endometriosis (N = 172) were identified at the Department of Gynecology. All participants answered questionnaires regarding sociodemographic factors, lifestyle habits and medical history, registered bowel symptoms on the Visual Analog Scale for Irritable Bowel Syndrome and passed blood samples. DNA was extracted and samples were genotyped, and a PRS was calculated based on previous genome-wide association studies of endometriosis. Inflammatory proteins and TSH receptor antibodies (TRAb) in serum were analyzed. Results: Inverse associations were identified between PRS and spread of endometriosis, involvement of the gastrointestinal tract and hormone treatment. However, significance was lost when calculated as p for trend and the specificity and sensitivity were low. There were no correlations between PRS and TRAb or inflammatory proteins. Conclusion: The findings indicate that specific PRS should be developed to predict clinical presentations in patient with endometriosis.</p>}},
  author       = {{Svensson, Agnes and Garcia-Etxebarria, Koldo and Åkesson, Anna and Borgfeldt, Christer and Roth, Bodil and Ek, Malin and D’Amato, Mauro and Ohlsson, Bodil}},
  issn         = {{1472-6874}},
  keywords     = {{Endometriosis; Gastrointestinal symptoms; Genetics; Inflammatory proteins; Polygenic risk score}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{BMC Women's Health}},
  title        = {{Applicability of polygenic risk scores in endometriosis clinical presentation}},
  url          = {{http://dx.doi.org/10.1186/s12905-022-01788-w}},
  doi          = {{10.1186/s12905-022-01788-w}},
  volume       = {{22}},
  year         = {{2022}},
}