article · Journal of Genetic Engineering and Biotechnology
Uterine fibroids are common benign tumours of the female reproductive system with complex genetic, hormonal, and inflammatory origins. An investigation involving 100 Egyptian women with uterine fibroids and 100 healthy controls evaluated the relationship between three HOTAIR gene variants and disease risk. The rs12826786 polymorphism showed a significant link to disease susceptibility, with its T allele occurring more frequently in affected individuals than in controls. The other two tested variants, rs1899663 and rs4759314, showed no significant relationship. In addition, patients displayed higher levels of inflammatory cytokines, including IL-1beta, IL-10, TNF-alpha, and IFN-gamma, alongside elevated estradiol, prolactin, and liver enzymes. Total protein and albumin concentrations were significantly lower in patients. The rs12826786 variant was also linked to alanine aminotransferase levels, suggesting that long non-coding RNA variations interact with hormonal and inflammatory pathways in fibroid development.
Uterine fibroids affect many women, yet the precise genetic and physiological triggers behind their formation remain poorly defined. Identifying specific genetic markers such as HOTAIR rs12826786 alongside shifts in inflammatory and hormonal indicators helps clarify how these tumours develop. This knowledge is important for guiding future work into better biological markers and targeted risk assessment for reproductive health.
This research sits at an early stage. The findings could potentially inform the development of genetic screening panels or biomarker assays by diagnostic companies seeking to assess uterine fibroid susceptibility. However, practical application remains distant, as the abstract emphasises that further validation in larger and more diverse population cohorts is needed before these markers could be translated into clinical diagnostic products.
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Background Uterine fibroids (UFs) are the most common benign tumors of the female reproductive system, with a multifactorial etiology involving genetic, hormonal, and inflammatory mechanisms. Long non-coding RNA HOX transcript antisense intergenic RNA (HOTAIR) has been implicated in tumorigenesis; however, the role of its genetic polymorphisms in uterine fibroids remains insufficiently explored. Aim This study aimed to investigate the association between HOTAIR gene polymorphisms (rs1899663, rs12826786, and rs4759314) and susceptibility to uterine fibroids in Egyptian women, as well as their relationship with inflammatory, hormonal, and biochemical parameters. Methods A total of 200 participants were enrolled, including 100 uterine fibroid patients and 100 age-matched healthy controls. Genotyping of HOTAIR polymorphisms was performed using amplification refractory mutation system polymerase chain reaction (ARMS-PCR). Serum cytokines, hormonal markers, and biochemical parameters were measured using ELISA and standard clinical methods. Statistical analyses were conducted to evaluate genotype–phenotype associations and disease risk. Results The rs12826786 polymorphism showed a significant association with uterine fibroid susceptibility, with the T allele being more frequent in patients than controls (45.5% vs. 33.5%, OR = 1.657, p = 0.019). Significant associations were also observed under the dominant and codominant genetic models ( p = 0.026). In contrast, rs1899663 and rs4759314 polymorphisms showed no significant association. Uterine fibroid patients exhibited significantly elevated levels of inflammatory cytokines (IL-1β, IL-10, TNF-α, IFN-γ), hormonal markers (prolactin and estradiol), and liver enzymes (ALT, AST, ACP), along with decreased total protein and albumin levels ( p < 0.001). A significant association between rs12826786 and ALT levels was also observed ( p = 0.038). Principal component analysis demonstrated clustering patterns influenced by inflammatory and hormonal parameters. Conclusion This study demonstrates that the HOTAIR rs12826786 polymorphism is significantly associated with increased susceptibility to uterine fibroids in Egyptian women, potentially through modulation of inflammatory and hormonal pathways. These findings highlight the potential role of lncRNA polymorphisms as biomarkers for uterine fibroid risk. However, further studies in larger and diverse populations are required to validate these findings.
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DOI: 10.1016/j.jgeb.2026.100797
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