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

Jennifer Mier-Cabrera, Jennifer Mier‐Cabrera, Oliver Cruz-Orozco, Julio de la Jara-Díaz, Oscar Galicia-Castillo, Mario Buenrostro-Jáuregui, Mario Buenrostro–Jáuregui, Alicia Parra‐Carriedo, Alicia Parra-Carriedo, César Hernández‐Guerrero, César Hernández-Guerrero
BMC women's health · 2022 · vol. 22(1) , pp. 356 · doi:10.1186/s12905-022-01941-5 · PMID:36028805 · W4293224235
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This case-control study in Mexican women found that specific alleles of TNF-alpha, IL-1beta, and IL1-Ra were associated with severe endometriosis rather than general risk.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This case-control study investigated whether TNF-α (−308, rs1800629), IL-1β (+3954, rs1143634), and IL1-Ra intron 2 VNTR (IL1RN, rs2234663) polymorphisms are associated with endometriosis in Mexican mestizo women, genotyping 183 surgically confirmed endometriosis cases (staged by r-ASRM) and 186 fertile controls without endometriosis using PCR/RFLP or PCR. Overall, there were no differences in genotype/allele frequencies or carriage rates between any of the three polymorphisms in cases versus controls, and age did not differ by group or stage. However, TNF*2-allele and IL1B*2-allele heterozygote prevalence/carriage was higher in stage IV endometriosis compared with controls, while IL1RN*2-allele prevalence and frequencies were lower than controls across endometriosis groups, with stage IV showing frequencies closer to controls. The paper concludes that these variants may correlate with disease severity rather than predisposition or risk. This paper is centrally about endometriosis — it tests inflammatory cytokine gene polymorphisms in relation to endometriosis risk and, notably, stage severity in Mexican women.

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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.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Interleukin-1beta Interleukin-1beta Interleukin-1beta Interleukin-1beta Interleukin-1beta Interleukin-1beta

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