Estradiol metabolism, endometriosis and migraine

A literature review to search overlapping genetic bases of endometriosis and migraine

Key Points

Highlights:

• The review focused on THREE hormon receptor polymorphisms which are shared by endometriosis and migraine, but further studies are needed.

Importance:

• Addressing a shared genetic predisposition for endometriosis and migraine might give an insight into treatment options.

What's done here:

• The PubMed database has been searched for studies on gene polymorphism for endometriosis and migraine separately.
• MeSH terms “endometriosis” and “migraine disorders”, and defined gene polymorphisms for sex hormones.
• Studies investigating the association between polymorphisms in the candidate sex hormone genes as ESR1, ESR2, FSHR, PGR, AR, SHBG, NRIP1, CYP1A1, CYP17A1, CYP19A1, COMT, FSH alfa, and beta have been included.
• Only the studies which confirm the histological diagnosis for endometriosis and the International Headache Society (IHS) guideline diagnosis for migraine were included.
• Ethnicity, age, and ASRM scores for endometriosis studies were also taken into count.

Key Results:

• 92 studies matched the criteria and 3 overlapping sex hormone-associated polymorphisms (SNP) in the estrogen receptor genes were detected.
• Both Caucasian and Asian women with endometriosis showed an association between the disease and SNP rs2234693 (Pvull), but for migraine analysis, the relationship was found only in Asian women.
• The polymorphism rs9340799 (Xbal) was found to be associated with endometriosis and migraine in Asian women, but not in Caucasian women.
• Overlapping polymorphisms for the PGR gene and rs6166 (FSHR gene) had a low "suggestion level".

Limitations:

• While telling a lot about endometriosis estrogen polymorphism and migraine the heterogeneity of the populations compared and the elder age women the genetic outputs used as a control group weakens the study results.

Lay Summary

Endometriosis and migraine are the leading pain diseases of women of reproductive ages. As both are known to be induced by hormonal changes, in the review conducted by Joy-Fleur van der Vaart et al, the authors aimed to find out the overlapping polymorphisms on hormone receptor genes by searching the literature about migraine and endometriosis case studies.

The PubMed database was searched for the studies published between 2000 and 2021 on gene polymorphism for endometriosis and migraine separately by using “endometriosis” and “migraine disorders” terms. The original case-control studies investigating associations between polymorphisms in the candidate sex hormone genes were included. Only the studies which confirm the histological diagnosis for endometriosis and the International Headache Society (IHS) guideline diagnosis for migraine have been taken into count. Ethnicity, age, and ASRM scores for endometriosis studies have also been noted down.

Ninety-two studies matched the criteria. The researchers found THREE overlapping sex hormone-associated polymorphisms (SNP) in the estrogen receptor genes. Both Caucasian and Asian women with endometriosis showed an association between the disease and SNPs named rs2234693 (Pvull), but for migraine analysis, the relationship was found only in Asian women. Another polymorphism called rs9340799 (Xbal) was found to be associated with both endometriosis and migraine in Asian women, but no association was found in Caucasian women.

The authors referred to these changes by highlighting the importance of ethnicity. For other hormone receptors, the search found overlapping polymorphisms for the PGR gene and rs6166 (FSHR gene) but mentioned that the "suggestion level" is low. While checking the changes by using a control group of women of all ages might affect the reliability of changes showing the relationship between these two common pain syndromes is an important point of view to take attention on future well-designed studies.

The article was published in the journal "Women`s Health".

Research Source: https://pubmed.ncbi.nlm.nih.gov/35848345/