Dataset Information

TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women.

ABSTRACT: BACKGROUND:Endometriosis is a widespread multifactorial disease in which environmental, genetic, and epigenetic factors contribute to the phenotype. Single Nucleotide Polymorphisms (SNPs) in genes implicated in pivotal molecular mechanisms have been investigated as susceptible risk factors in distinct populations. Among these, Toll-like receptor 4 (TLR4) represents a good candidate due to its role in the immune/inflammatory response and endometriosis pathogenesis. METHODS:The TRL4 gene T399I SNP (C/T transition, rs4986791) was investigated in 236 Italian endometriosis patients and 150 controls by using the PCR-RFLP method. One-tailed Fisher's exact test was used to compare differences between categorical variables. T399I genotype distribution was evaluated for Hardy-Weinberg equilibrium in both groups using the Chi-squared test for given probabilities. RESULTS:Fisher's exact test comparing C and T allele frequencies showed a difference in the frequency of T alleles between patients and controls (OR = 1.96, 95% confidence interval 0.91-4.23; p-value = 0.0552). Genotype frequencies did not show any significant difference between patients and controls. The homozygous TT genotype was observed in 2% of endometriosis women and not in controls. CONCLUSIONS:Our results show that the TLR4 rs4986791 T variant may be considered a genetic risk factor for endometriosis in Italian women. More extensive studies in other populations are needed to confirm this result.

SUBMITTER: Marchionni E

PROVIDER: S-EPMC7277393 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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<i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women.

Marchionni Enrica E Porpora Maria Grazia MG Megiorni Francesca F Piacenti Ilaria I Giovannetti Agnese A Marchese Cinzia C Benedetti Panici Pierluigi P Pizzuti Antonio A

Diagnostics (Basel, Switzerland) 20200427 5

<h4>Background</h4>Endometriosis is a widespread multifactorial disease in which environmental, genetic, and epigenetic factors contribute to the phenotype. Single Nucleotide Polymorphisms (SNPs) in genes implicated in pivotal molecular mechanisms have been investigated as susceptible risk factors in distinct populations. Among these, Toll-like receptor 4 (TLR4) represents a good candidate due to its role in the immune/inflammatory response and endometriosis pathogenesis.<h4>Methods</h4>The <i>T ...[more]

PMID: 32349318

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Project description:BackgroundEndometriosis, which occurs in approximately 10% of women of reproductive age, is defined as the presence of endometrial tissue outside the uterus. Women with endometriosis are more likely to have difficulty conceiving and tend to receive infertility treatment, including assisted reproductive technology (ART) therapy. There has not yet been a prospective cohort study examining the effects of endometriosis on pregnancy outcome in pregnant Japanese women.MethodologyThis was a prospective cohort study of the incidence of obstetrical complications in women with endometriosis using data of the Japan Environment & Children's Study (JECS). Included in this study were 9,186 pregnant women in the JECS with or without a history of endometriosis who gave birth or stillbirth or whose pregnancy was terminated with abortion between February and December 2011.Main outcome measuresThe effects of endometriosis on pregnancy outcome.ResultsOf the 9,186 pregnant women in the JECS, 4,119 (44.8%) had obstetrical complications; 330 participants reported a diagnosis of endometriosis before pregnancy, and these women were at higher risk for complications of pregnancy than those without a history of endometriosis (odds ratio (OR) = 1.50; 95% confidence interval (CI) 1.20 to 1.87). Logistic regression analyses showed that the adjusted OR for obstetrical complications of pregnant women who conceived naturally and had a history of endometriosis was 1.45 (CI 1.11 to 1.90). Among pregnant women with endometriosis, the ORs of preterm premature rupture of the membranes (PROM) and placenta previa were significantly higher compared with women never diagnosed with endometriosis who conceived naturally or conceived after infertility treatment, except for ART therapy (OR 2.14, CI 1.03-4.45 and OR 3.37, CI 1.32-8.65).ConclusionsThis study showed that endometriosis significantly increased the incidence of preterm PROM and placenta previa after adjusting for confounding of the data by ART therapy.

Dataset Information

TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women.

Publications

<i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women.

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