Polymorphisms and endometriosis: a systematic review and meta-analyses

Area of Science:

• Gynecology
• Genetics
• Molecular Biology

Background:

• Endometriosis is a common estrogen-dependent gynecological disorder affecting 10% of women.
• It often leads to infertility and chronic pelvic pain, with diagnosis delayed by 3.3-10.7 years.
• Efficient screening tests are needed to reduce diagnostic delays and disease progression.

Purpose of the Study:

• To conduct a systematic review and meta-analysis of DNA polymorphisms associated with endometriosis.
• To identify polymorphisms that may predispose to endometriosis and could be valuable for screening.

Main Methods:

• Systematic review of MEDLINE-indexed English-language publications on DNA polymorphisms in endometriosis.
• Used PubTator for gene name extraction and selected polymorphisms reported in at least three studies.
• Applied strict inclusion/exclusion criteria and PRISMA guidelines for meta-analysis.

Main Results:

• Identified 28 eligible polymorphisms for meta-analysis from 395 initial publications.
• Five polymorphisms significantly associated with endometriosis: IFNG (CA) repeat, GSTM1 null, GSTP1 rs1695, WNT4 rs16826658, and WNT4 rs2235529.
• 18 polymorphisms showed trends towards association or lack thereof, requiring further investigation; 5 were not associated.

Conclusions:

• Identified key polymorphisms (IFNG, GSTM1, GSTP1, WNT4) as potential candidates for endometriosis screening.
• Findings may improve early diagnosis in primary care and enhance understanding and management of endometriosis.
• Refined criteria for control populations in genetic association studies for endometriosis.