Leiomyomas have similar genetic background with endometriosis

Genome-wide association study reveals overlapping findings between endometriosis and leiomyomas

Key Points

Highlights:

• Uterine smooth muscle tumors, leiomyomas, are hormone-dependent benign tumors with an estimated prevalence reaching 77%. Genome-wide association study (GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait.
• Four loci identified in the meta-analysis of GWAS study in uterine leiomyomas are also associated with endometriosis risk. 

Importance:

• Observational remarks in the pathogenesis of uterine leiomyoma development, suggesting overlapping genetic background with endometriosis. 
• Discovering mutual pathogenic mechanism for uterine leiomyomas and endometriosis has the potential of not only a deeper understanding of the pathology, but also therapy for these diseases that cause significant morbidity in about >30% of the world’s population. 

Data

• An epidemiological meta-analysis in 402,868 women suggests at least a doubling of risk for uterine leiomyoma diagnosis among those with a history of endometriosis.

What's done here:

• GWAS meta-analysis was conducted in 35,474 cases and 267,505 female controls of European ancestry, identifying eight novel genome-wide significant loci, in addition to confirming 21 previously reported loci.

Lay Summary

This multicenter research conducted in institutions located in the USA and UK published in Nature Communications, October 2019 issue. 

Leiomyomata of the uterus are hormone-dependent tumors with an estimated prevalence of about  20-77%. İn several publications. Research in uterine leiomyoma pathogenesis suggests overlapping genetic similarities with endometriosis, both of them affecting millions of women worldwide causing considerable morbidity. 

Revealing similar pathogenic mechanisms for uterine leiomyomas and endometriosis may not only a result in deeper better understanding of the pathogenesis, but also therapeutical frontiers.

Genome-wide association study (GWAS), observational study of a genome-wide set of genetic variants in different individuals for exploring genes in disease traits. Multicentral study of a large number of patient groups identified four loci in the metaanalysis of GWAS study in uterine leiomyomas that are also associated with endometriosis risk. This epidemiological meta-analysis in 402,868 women suggests at least a doubling of risk for uterine leiomyoma diagnosis among those with a history of endometriosis.

Finally, a clear proposal from this multicenter large population study is that there are suggest overlapping genetic origins with uterus leiomyomas and endometriosis. Further research is needed to quantify the contribution of genetic effects on the directional relationship between endometriosis and uterus leiomyomas.

The above findings will enable us to quantify what portion of the Mendelian randomization results reflect the fundamental pathogenetic overlap in these two pathologic processes.

Research Source: https://www.ncbi.nlm.nih.gov/pubmed/31649266