Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family.

Gajbhiye, Rahul; Mc Kinnon, Brett; Mortlock, Sally; Mueller, Michael; Montgomery, Grant (2018). Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family. Reproductive sciences, 25(9), pp. 1307-1317. Sage 10.1177/1933719118768688

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Endometriosis is characterized by the growth of epithelial and stromal cells outside the uterine cavity. It has a complex etiology and affects ∼10% of reproductive age women. It is accompanied by a chronic inflammatory response with substantial evidence to indicate genetic susceptibility. The causal genes and their pathways leading to endometriosis, however, are still unknown. Recently, genomewide association studies on endometriosis identified 14 genomic risk loci in women of European and Japanese ancestry. It is becoming increasingly clear that these risk regions are intergenic and thus contribute to disease susceptibility through regulatory mechanisms, most likely mediated through regulation of genes within a restricted distance from the risk variants. One endometriosis risk locus has been detected at chromosome 2q13 within an inflammatory-rich region of gene transcripts and thus may play a role in the inflammation component of the disease. We carried out detailed analysis of the genomic region 250 kb on either side of sentinel SNP rs10167914 and identified 21 transcripts which contained 6 interleukin (IL)-1 family genes, 3 previously reported coding genes that have a relationship to inflammation, 4 novel coding, or pseudogenes, and 8 noncoding RNA transcripts. Through an extensive literature search, we examined the roles these genes and their resultant proteins play in endometriosis pathogenesis. The results suggest alteration in the expression the IL-1 family transcripts either alone or as a complex milieu could have a significant influence on endometriosis and should be prioritized for future study on the implications of inflammation on endometriotic lesions.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Endometriose und gynäkologische Onkologie
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Endometriose und gynäkologische Onkologie

UniBE Contributor:

Mc Kinnon, Brett and Mueller, Michael

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1933-7191

Publisher:

Sage

Language:

English

Submitter:

Monika Zehr

Date Deposited:

03 Apr 2019 12:44

Last Modified:

25 Oct 2019 22:41

Publisher DOI:

10.1177/1933719118768688

PubMed ID:

29669463

Uncontrolled Keywords:

IL-1 SNPs endometriosis genetics inflammation

BORIS DOI:

10.7892/boris.125875

URI:

https://boris.unibe.ch/id/eprint/125875

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