Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study
Abstract Background Endometriosis is an estrogen-dependent and chronic inflammatory disease affecting up to 10% of women. It is the result of a combined interaction of genetic, epigenetic, environmental, lifestyle, reproductive and local inflammatory factors. In this study, we investigated whether s...
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| Format: | Article |
| Language: | English |
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BMC
2022-08-01
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| Series: | BMC Women's Health |
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| Online Access: | https://doi.org/10.1186/s12905-022-01941-5 |
| _version_ | 1828743664193503232 |
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| author | Jennifer Mier-Cabrera Oliver Cruz-Orozco Julio de la Jara-Díaz Oscar Galicia-Castillo Mario Buenrostro-Jáuregui Alicia Parra-Carriedo César Hernández-Guerrero |
| author_facet | Jennifer Mier-Cabrera Oliver Cruz-Orozco Julio de la Jara-Díaz Oscar Galicia-Castillo Mario Buenrostro-Jáuregui Alicia Parra-Carriedo César Hernández-Guerrero |
| author_sort | Jennifer Mier-Cabrera |
| collection | DOAJ |
| description | Abstract Background Endometriosis is an estrogen-dependent and chronic inflammatory disease affecting up to 10% of women. It is the result of a combined interaction of genetic, epigenetic, environmental, lifestyle, reproductive and local inflammatory factors. In this study, we investigated whether single nucleotide polymorphisms (SNPs) mapping to TNF-alpha (TNF, rs1800629) and IL-1beta (IL1B, rs1143634) and variable number tandem repeat polymorphism mapping to IL1-Ra (IL1RN intron 2, rs2234663) genetic loci are associated with risk for endometriosis in a Mexican mestizo population. Methods This study included 183 women with confirmed endometriosis (ENDO) diagnosed after surgical laparoscopy and 186 women with satisfied parity and without endometriosis as controls (CTR). PCR/RFLP technique was used for genotyping SNPs (rs1800629 and rs1143634); PCR for genotyping rs2234663. Results We found no statistical differences in age between groups nor among stages of endometriosis and the CTR group. We observed no difference in genotype and allele frequencies, nor carriage rate between groups in none of the three studied polymorphisms. The prevalence of TNF*2-allele heterozygotes (p = 0.025; OR 3.8), TNF*2-allele (p = 0.029; OR 3.4), IL1B*2-allele heterozygotes (p = 0.044; OR 2.69) and its carriage rate (p = 0.041; OR 2.64) in endometriosis stage IV was higher than the CTR group. Surprisingly, the carriage rate of IL1RN*2-allele (ENDO: p = 0.0004; OR 0.4; stage I: p = 0.002, OR 0.38; stage II: p = 0.002, OR 0.35; stage III: p = 0.003, OR 0.33), as well as the IL1RN*2-allele frequencies (ENDO: p = 0.0008, OR 0.55; I: p = 0.037, OR 0.60; II: p = 0.002, OR 0.41; III: p = 0.003, OR 0.38) were lower than the CTR group. Women with endometriosis stage IV (severe) had frequencies more alike to the CTR group in the IL1RN*2 allele frequency (31.2% vs. 27.2%) and carriage rate (37.5% vs. 41.9%). Conclusion Although these polymorphisms are not associated with the risk of endometriosis, Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk. |
| first_indexed | 2024-04-13T01:43:00Z |
| format | Article |
| id | doaj.art-59518a0a7003413d8c0fa9ab9772e172 |
| institution | Directory Open Access Journal |
| issn | 1472-6874 |
| language | English |
| last_indexed | 2024-04-13T01:43:00Z |
| publishDate | 2022-08-01 |
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| series | BMC Women's Health |
| spelling | doaj.art-59518a0a7003413d8c0fa9ab9772e1722022-12-22T03:08:08ZengBMCBMC Women's Health1472-68742022-08-0122111010.1186/s12905-022-01941-5Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control studyJennifer Mier-Cabrera0Oliver Cruz-Orozco1Julio de la Jara-Díaz2Oscar Galicia-Castillo3Mario Buenrostro-Jáuregui4Alicia Parra-Carriedo5César Hernández-Guerrero6Division of Social Studies, Department of Health, Universidad IberoamericanaMedical Division, Department of Gynecology, Instituto Nacional de Perinatología “Isidro Espinosa de los Reyes”Medical Division, Department of Gynecology, Instituto Nacional de Perinatología “Isidro Espinosa de los Reyes”Division of Social Studies, Department of Psychology, Universidad IberoamericanaDivision of Social Studies, Department of Psychology, Universidad IberoamericanaDivision of Social Studies, Department of Health, Universidad IberoamericanaDivision of Social Studies, Department of Health, Universidad IberoamericanaAbstract Background Endometriosis is an estrogen-dependent and chronic inflammatory disease affecting up to 10% of women. It is the result of a combined interaction of genetic, epigenetic, environmental, lifestyle, reproductive and local inflammatory factors. In this study, we investigated whether single nucleotide polymorphisms (SNPs) mapping to TNF-alpha (TNF, rs1800629) and IL-1beta (IL1B, rs1143634) and variable number tandem repeat polymorphism mapping to IL1-Ra (IL1RN intron 2, rs2234663) genetic loci are associated with risk for endometriosis in a Mexican mestizo population. Methods This study included 183 women with confirmed endometriosis (ENDO) diagnosed after surgical laparoscopy and 186 women with satisfied parity and without endometriosis as controls (CTR). PCR/RFLP technique was used for genotyping SNPs (rs1800629 and rs1143634); PCR for genotyping rs2234663. Results We found no statistical differences in age between groups nor among stages of endometriosis and the CTR group. We observed no difference in genotype and allele frequencies, nor carriage rate between groups in none of the three studied polymorphisms. The prevalence of TNF*2-allele heterozygotes (p = 0.025; OR 3.8), TNF*2-allele (p = 0.029; OR 3.4), IL1B*2-allele heterozygotes (p = 0.044; OR 2.69) and its carriage rate (p = 0.041; OR 2.64) in endometriosis stage IV was higher than the CTR group. Surprisingly, the carriage rate of IL1RN*2-allele (ENDO: p = 0.0004; OR 0.4; stage I: p = 0.002, OR 0.38; stage II: p = 0.002, OR 0.35; stage III: p = 0.003, OR 0.33), as well as the IL1RN*2-allele frequencies (ENDO: p = 0.0008, OR 0.55; I: p = 0.037, OR 0.60; II: p = 0.002, OR 0.41; III: p = 0.003, OR 0.38) were lower than the CTR group. Women with endometriosis stage IV (severe) had frequencies more alike to the CTR group in the IL1RN*2 allele frequency (31.2% vs. 27.2%) and carriage rate (37.5% vs. 41.9%). Conclusion Although these polymorphisms are not associated with the risk of endometriosis, Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk.https://doi.org/10.1186/s12905-022-01941-5InflammationPro-inflammatory cytokinesSingle nucleotide polymorphismIL1RN*2TNF*2IL1B*2 |
| spellingShingle | Jennifer Mier-Cabrera Oliver Cruz-Orozco Julio de la Jara-Díaz Oscar Galicia-Castillo Mario Buenrostro-Jáuregui Alicia Parra-Carriedo César Hernández-Guerrero Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study BMC Women's Health Inflammation Pro-inflammatory cytokines Single nucleotide polymorphism IL1RN*2 TNF*2 IL1B*2 |
| title | Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study |
| title_full | Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study |
| title_fullStr | Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study |
| title_full_unstemmed | Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study |
| title_short | Polymorphisms of TNF-alpha (− 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study |
| title_sort | polymorphisms of tnf alpha 308 il 1beta 3954 and il1 ra vntr are associated to severe stage of endometriosis in mexican women a case control study |
| topic | Inflammation Pro-inflammatory cytokines Single nucleotide polymorphism IL1RN*2 TNF*2 IL1B*2 |
| url | https://doi.org/10.1186/s12905-022-01941-5 |
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