Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis

Abstract Objective: Endometriosis pain is associated with inflammatory cytokines, such as leptin (LEP), through activation with its receptor (LEPR), and its expression can be influenced by the presence of genetic polymorphisms. Therefore, this study aims to evaluate the role of the LEP rs7799039 an...

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Main Authors: Jéssica Vilarinho Cardoso, Daniel Escorsim Machado, Fernanda Nunes de Almeida, Plínio Tostes Berardo, Rui Medeiros, Jamila Alessandra Perini
Format: Article
Language:English
Published: Federação Brasileira das Sociedades de Ginecologia e Obstetrícia 2025-08-01
Series:Revista Brasileira de Ginecologia e Obstetrícia
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Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032025000100229&lng=en&tlng=en
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author Jéssica Vilarinho Cardoso
Daniel Escorsim Machado
Fernanda Nunes de Almeida
Plínio Tostes Berardo
Rui Medeiros
Jamila Alessandra Perini
author_facet Jéssica Vilarinho Cardoso
Daniel Escorsim Machado
Fernanda Nunes de Almeida
Plínio Tostes Berardo
Rui Medeiros
Jamila Alessandra Perini
author_sort Jéssica Vilarinho Cardoso
collection DOAJ
description Abstract Objective: Endometriosis pain is associated with inflammatory cytokines, such as leptin (LEP), through activation with its receptor (LEPR), and its expression can be influenced by the presence of genetic polymorphisms. Therefore, this study aims to evaluate the role of the LEP rs7799039 and LEPR rs1137100 polymorphisms in the painful symptoms of endometriosis in Brazilian women. Methods: A retrospective study was carried out in two Brazilian public hospitals with 237 cases of endometriosis, divided into two comparison groups according to the painful symptoms associated with the disease (absence or presence of severe and disabling symptoms). Genetic analysis was performed by real-time PCR technique, and association analyses were estimated using odds ratio (OR) and 95% confidence interval (CI), using a non-conditional logistic regression model. Results: Endometriosis cases showed a high prevalence of painful symptoms: 82% dysmenorrhea, 67% dyspareunia, 53% chronic pelvic pain, and 52% cyclical intestinal and 25% urinary complaints. Regarding genetic analyses, cases had 32.7% of the A allele and 11.4% of the AA genotype for the LEP rs7799039 G>A SNP, and 17.5% of the G allele and 2.5% for of GG genotype for the LEPR rs1137100 A>G SNP. There is a significant association of the LEPR rs1137100 polymorphism with chronic pelvic pain (OR=1.75; CI 95%=1.05-2.89) and dyspareunia (OR=1.78; CI 95%=1.01-3.12) in women with endometriosis. Conclusion: Our findings suggest that the LEPR rs1137100 polymorphism is associated with increased endometriosis-related gynecological pain and may be a potential target for molecular diagnosis of the disease and development of individualized treatment strategies.
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spelling doaj-art-e997dda0909745d9b1c50cee4532c0622025-08-20T03:23:26ZengFederação Brasileira das Sociedades de Ginecologia e ObstetríciaRevista Brasileira de Ginecologia e Obstetrícia0100-72032025-08-014710.61622/rbgo/2025rbgo43Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosisJéssica Vilarinho Cardosohttps://orcid.org/0000-0002-6758-3664Daniel Escorsim Machadohttps://orcid.org/0000-0002-2640-8579Fernanda Nunes de Almeidahttps://orcid.org/0009-0000-6075-6078Plínio Tostes Berardohttps://orcid.org/0000-0002-4426-699XRui Medeiroshttps://orcid.org/0000-0003-3010-8373Jamila Alessandra Perinihttps://orcid.org/0000-0002-7683-0698Abstract Objective: Endometriosis pain is associated with inflammatory cytokines, such as leptin (LEP), through activation with its receptor (LEPR), and its expression can be influenced by the presence of genetic polymorphisms. Therefore, this study aims to evaluate the role of the LEP rs7799039 and LEPR rs1137100 polymorphisms in the painful symptoms of endometriosis in Brazilian women. Methods: A retrospective study was carried out in two Brazilian public hospitals with 237 cases of endometriosis, divided into two comparison groups according to the painful symptoms associated with the disease (absence or presence of severe and disabling symptoms). Genetic analysis was performed by real-time PCR technique, and association analyses were estimated using odds ratio (OR) and 95% confidence interval (CI), using a non-conditional logistic regression model. Results: Endometriosis cases showed a high prevalence of painful symptoms: 82% dysmenorrhea, 67% dyspareunia, 53% chronic pelvic pain, and 52% cyclical intestinal and 25% urinary complaints. Regarding genetic analyses, cases had 32.7% of the A allele and 11.4% of the AA genotype for the LEP rs7799039 G>A SNP, and 17.5% of the G allele and 2.5% for of GG genotype for the LEPR rs1137100 A>G SNP. There is a significant association of the LEPR rs1137100 polymorphism with chronic pelvic pain (OR=1.75; CI 95%=1.05-2.89) and dyspareunia (OR=1.78; CI 95%=1.01-3.12) in women with endometriosis. Conclusion: Our findings suggest that the LEPR rs1137100 polymorphism is associated with increased endometriosis-related gynecological pain and may be a potential target for molecular diagnosis of the disease and development of individualized treatment strategies.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032025000100229&lng=en&tlng=enEndometriosisDysmenorrheaDyspareuniaAlellesPolymorphism, geneticGenotypeReceptors, leptinInflammatory cytokinesPelvic pain
spellingShingle Jéssica Vilarinho Cardoso
Daniel Escorsim Machado
Fernanda Nunes de Almeida
Plínio Tostes Berardo
Rui Medeiros
Jamila Alessandra Perini
Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis
Revista Brasileira de Ginecologia e Obstetrícia
Endometriosis
Dysmenorrhea
Dyspareunia
Alelles
Polymorphism, genetic
Genotype
Receptors, leptin
Inflammatory cytokines
Pelvic pain
title Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis
title_full Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis
title_fullStr Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis
title_full_unstemmed Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis
title_short Leptin receptor polymorphism increases the risk of painful symptoms in Brazilian women with endometriosis
title_sort leptin receptor polymorphism increases the risk of painful symptoms in brazilian women with endometriosis
topic Endometriosis
Dysmenorrhea
Dyspareunia
Alelles
Polymorphism, genetic
Genotype
Receptors, leptin
Inflammatory cytokines
Pelvic pain
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032025000100229&lng=en&tlng=en
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