<i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women
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 disti...
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| Format: | Article |
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MDPI AG
2020-04-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/10/5/255 |
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| author | Enrica Marchionni Maria Grazia Porpora Francesca Megiorni Ilaria Piacenti Agnese Giovannetti Cinzia Marchese Pierluigi Benedetti Panici Antonio Pizzuti |
| author_facet | Enrica Marchionni Maria Grazia Porpora Francesca Megiorni Ilaria Piacenti Agnese Giovannetti Cinzia Marchese Pierluigi Benedetti Panici Antonio Pizzuti |
| author_sort | Enrica Marchionni |
| collection | DOAJ |
| description | 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 <i>TRL4</i> 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; <i>p</i>-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 <i>TLR4</i> 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. |
| first_indexed | 2024-03-10T20:12:14Z |
| format | Article |
| id | doaj.art-3af159841e5541fb97dc55b2d148cc81 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T20:12:14Z |
| publishDate | 2020-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-3af159841e5541fb97dc55b2d148cc812023-11-19T22:50:24ZengMDPI AGDiagnostics2075-44182020-04-0110525510.3390/diagnostics10050255<i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian WomenEnrica Marchionni0Maria Grazia Porpora1Francesca Megiorni2Ilaria Piacenti3Agnese Giovannetti4Cinzia Marchese5Pierluigi Benedetti Panici6Antonio Pizzuti7Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyDepartment of Maternal and Child Health and Urology, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyDepartment of Maternal and Child Health and Urology, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyLaboratory of Clinical Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyDepartment of Maternal and Child Health and Urology, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, ItalyBackground: 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 <i>TRL4</i> 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; <i>p</i>-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 <i>TLR4</i> 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.https://www.mdpi.com/2075-4418/10/5/255endometriosisTLR4T399I polymorphism |
| spellingShingle | Enrica Marchionni Maria Grazia Porpora Francesca Megiorni Ilaria Piacenti Agnese Giovannetti Cinzia Marchese Pierluigi Benedetti Panici Antonio Pizzuti <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women Diagnostics endometriosis TLR4 T399I polymorphism |
| title | <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women |
| title_full | <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women |
| title_fullStr | <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women |
| title_full_unstemmed | <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women |
| title_short | <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women |
| title_sort | i tlr4 i t399i polymorphism and endometriosis in a cohort of italian women |
| topic | endometriosis TLR4 T399I polymorphism |
| url | https://www.mdpi.com/2075-4418/10/5/255 |
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