A functional promoter polymorphism in interleukin-10 gene influences susceptibility to endometriosis
Observational
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⤵ 25 in-corpus citations
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This study investigated how a specific genetic variation in the interleukin-10 gene's promoter region affects an individual's likelihood of developing endometriosis.
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Abstract
OBJECTIVE: To investigate the involvement of inflammation in the development of endometriosis.
DESIGN: Case-control study to investigate the association between endometriosis and four inflammation-related genes: interleukin (IL)-6, IL-10, IL-1 beta, and cyclooxygenase-2.
SETTING: University hospital.
PATIENT(S): We had 196 cases with pathologically proved endometriosis and 397 disease-free women as control subjects.
INTERVENTION(S): A total of 12 single nucleotide polymorphisms (SNPs) were selected for genotyping, including functional SNPs and common tagging SNPs.
MAIN OUTCOME MEASURE(S): Logistic regression and haplotype analyses were performed to evaluate the genetic effect with adjustment for other covariates.
RESULT(S): Genotypes at each SNP were in Hardy-Weinberg equilibrium in either case or control subjects, except for rs1800871 at IL-10 in the case subjects (P=.04). We found that the individuals carrying minor allele C of a functional promoter SNP rs1800871 at IL-10 was associated with a reduced risk by approximately twofold compared with the common TT genotype. The T allele was reported to have a lower gene expression level than the C allele, suggesting inadequate suppression of inflammation leading to endometriosis development. Haplotype analysis of the IL-10 gene did not yield a better result. Other genes were not associated with endometriosis.
CONCLUSION(S): This study suggests that the functional promoter polymorphism at IL-10 may play a role in the development of endometriosis.
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Cited by (25)
- Co-occurrence of endometriosis with psoriasis and psoriatic arthritis: Genetic insights (Review) 2025
- Genetic factors involved in the co‑occurrence of endometriosis with ankylosing spondylitis (Review) 2023
- Association between polymorphisms of cytokine genes and endometriosis: A comprehensive systematic review and meta-analysis 2023
- Increased risk of rheumatoid arthritis in patients with endometriosis: genetic aspects 2022
- Relationships between vitamin D receptor genetic polymorphisms and endometriosis in Korean women 2019
- Polymorphisms of Cytokine Genes in Genital Endometriosis 2019
- Polymorphisms and endometriosis: a systematic review and meta-analyses 2019
- Cross-disorder analysis of endometriosis and its comorbid diseases reveals shared genes and molecular pathways and proposes putative biomarkers of endometriosis 2019
- Synthetic Steroid Hormones Regulated Cell Proliferation Through MicroRNA-34a-5p in Human Ovarian Endometrioma 2016
- Lovastatin Reduces Stemness via Epigenetic Reprograming of BMP2 and GATA2 in Human Endometrium and Endometriosis 2016
- Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (review) 2014
- Serum level of IL-10 is increased in patients with endometriosis, and IL-10 promotes the growth of lesions in a murine model 2013
- Tumor necrosis factor and interleukin-6 gene polymorphisms and endometriosis risk in Asians: a systematic review and meta-analysis 2013
- miRNA-199a-5p regulates VEGFA in endometrial mesenchymal stem cells and contributes to the pathogenesis of endometriosis 2013
- Genetic Polymorphisms Associated with Endometriosis in Pakistani Women 2013
- Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes 2012
- Stem Cell as the Novel Pathogenesis of Endometriosis 2012
- Insights into Assessing the Genetics of Endometriosis 2012
- Association between interleukin-10 promoter polymorphisms and endometriosis: a meta-analysis 2012
- Pathophysiological factors and genetic association in endometriosis 2011
- Interleukin-1β induces cyclooxygenase-2 expression and promotes the invasive ability of human mesenchymal stem cells derived from ovarian endometrioma 2011
- T-cell receptor beta polymorphism is not associated with endometriosis 2011
- Association of an interleukin-16 gene polymorphism with the risk and pain phenotype of endometriosis 2010
- Association of interleukin--10 promoter polymorphism and endometriosis 2010
- Comparative study of human eutopic and ectopic endometrial mesenchymal stem cells and the development of an in vivo endometriotic invasion model 2010
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- europepmc
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