Endometriosis and Genetic Polymorphisms in Proinflammatory Cytokines

Serum concentrations of IL‑16 and its genetic polymorphism may be used as a marker to diagnose and determine the severity of endometriosis.

Key Points

Highlights:

• The demonstration of the change in serum levels of inflammatory cytokines and their genetic polymorphisms in women with endometriosis would help to understand genetic predisposition in the pathogenesis of endometriosis.

Importance:

• Serum concentrations of inflammatory cytokines and their genetic polymorphisms should be investigated in women with endometriosis for differential diagnosis and prevention of poor outcomes associated with the disease.   

What’s done here?

• This case-control study was conducted to evaluate serum levels of Interleukin-6 (IL-6) and IL-16 in women with endometriosis. Some genetic polymorphisms of IL-6 [rs1800795G/C) and IL-16 (rs4072111C/T, rs11556218T/G, rs4778889T/C] were also investigated to understand whether there was an association with the severity of endometriosis.
• Participants consisted of the study group with a surgical diagnosis of endometriosis (n=64) and the age-matched control group without any evidence of endometriosis (n=64).
• Women having any diagnosis of inflammatory diseases were excluded from the study.
• The pain was assessed using a numerical rating scale in those who reported chronic pelvic pain.

Key results:

• Chronic pelvic pain, painful menstruation, painful intercourse, painful defecation, painful urination, ascites, and pleural effusion were detected with a significantly higher frequency in the study group.
• There was no significant difference regarding serum IL-6 or IL-16 concentrations between the two groups.
• Although there was no statistical significance in terms of serum IL-6 concentration, serum IL-16 concentration was higher in those with severe pain compared to those who had mild pain.
• The genetic polymorphisms of IL-6 (rs1800795G/C) and IL-16 (rs4072111C/T, rs11556218T/G) did not differ significantly between the groups.
• The genetic polymorphism of IL-16 (rs4778889)was significantly higher in the study group, compared to the control group.

Lay Summary

Several pathophysiological mechanisms have been proposed for the chronic inflammatory nature of endometriosis, such as retrograde menstruation, coelomic metaplasia, hormonal change, oxidative stress and inflammation, immune dysfunction, and apoptosis suppression. One of the most widely accepted theories in recent years is inflammatory dysfunction and genetic polymorphism.

Babah et al., a research group from Nigeria and the UK, published a study titled “Serum concentrations of IL‑16 and its genetic polymorphism rs4778889 affect the susceptibility and severity of endometriosis in Nigerian women” in the journal BMC Women’s Health. The authors aimed to compare serum levels of Interleukin-6 (IL-6) and IL-16 and to investigate the genetic polymorphisms of IL-6 (rs1800795G/C) and IL-16 (rs4072111C/T, rs11556218T/G, rs4778889T/C) in women with and without endometriosis.

There was no significant difference regarding serum IL-6 or IL-16 concentrations between the study and control groups. No statistical significance in terms of serum IL-6 concentration distribution according to the pain score of women with endometriosis was observed.

On the other hand, serum IL-16 concentration distribution in women with endometriosis was found to be significantly higher in those with severe pain compared to those who had mild pain.

The genetic polymorphisms of IL-6 (rs1800795G/C) and IL-16 (rs4072111C/T, rs11556218T/G) did not differ significantly between the groups. The genetic polymorphism of IL-16 (rs4778889) was significantly higher in the study group, compared to the control group.

“Serum IL-16 concentration and the genetic polymorphism of IL-16 (rs4778889) may be important markers for endometriosis.” the authors added.

Research Source: https://pubmed.ncbi.nlm.nih.gov/37170270/