Editing Endometriosis (section)

===Genetics===
Endometriosis is a [[Genetic disorder|heritable condition]] influenced by both genetic and [[environmental factor]]s,<ref name=Fauser2011/> a genetic disorder of [[Quantitative trait locus#Quantitative traits|polygenic/multifactorial inheritance]]<ref name="GOE-2004">{{cite journal | vauthors = Bischoff F, Simpson JL | title = Genetics of endometriosis: heritability and candidate genes | journal = Best Practice & Research. Clinical Obstetrics & Gynaecology | volume = 18 | issue = 2 | pages = 219–232 | date = April 2004 | pmid = 15157639 | doi = 10.1016/j.bpobgyn.2004.01.004 }}</ref> acquired via affected genes from either [[First-degree relative|a person's father or mother]]. For example, children or siblings of women with endometriosis are at higher risk of developing endometriosis themselves; low [[progesterone]] levels may be genetic, and may contribute to a hormone imbalance.<ref name="emed">Kapoor D, Davila W (2005). [http://www.emedicine.com/med/topic3419.htm Endometriosis], {{webarchive |url=https://web.archive.org/web/20071111045258/http://www.emedicine.com/MED/topic3419.htm |date=11 November 2007 }} ''eMedicine''.</ref> Individuals with an affected first-degree relative have an approximate six-fold increase incidence of endometriosis.<ref>{{cite journal | vauthors = Giudice LC, Kao LC | title = Endometriosis | journal = Lancet | volume = 364 | issue = 9447 | pages = 1789–1799 | year = 2004 | pmid = 15541453 | doi = 10.1016/S0140-6736(04)17403-5 | s2cid = 208788714 }}</ref>

Inheritance is significant but not the sole risk factor for endometriosis. Studies attribute 50% of the risk to genetics, the other 50% to environmental factors.<ref name="Montgomery2020">{{cite journal | vauthors = Montgomery GW, Mortlock S, Giudice LC | title = Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis? | journal = [[Journal of Minimally Invasive Gynecology]] | volume = 27 | issue = 2 | pages = 280–286 | date = February 2020 | pmid = 31683028 | pmc = 7863762 | doi = 10.1016/j.jmig.2019.10.020 }}</ref> It has been proposed that endometriosis may result from multiple mutations within target genes, in a mechanism similar to the development of cancer.<ref name=Fauser2011/> In this case, the mutations may be either [[Somatic mutation|somatic]] or [[Heritability|heritable]].<ref name=Fauser2011/>

A 2019 [[genome-wide association study]] (GWAS) review enumerated 36 genes with mutations associated with endometriosis development.<ref name="Vassilopoulou2019">{{cite journal | vauthors = Vassilopoulou L, Matalliotakis M, Zervou MI, Matalliotaki C, Krithinakis K, Matalliotakis I, Spandidos DA, Goulielmos GN | title = Defining the genetic profile of endometriosis | journal = Experimental and Therapeutic Medicine | volume = 17 | issue = 5 | pages = 3267–3281 | date = May 2019 | pmid = 30988702 | pmc = 6447774 | doi = 10.3892/etm.2019.7346 }}</ref> Nine [[Locus (genetics)|chromosome loci]] were robustly replicated:<ref>{{cite journal | vauthors = Rahmioglu N, Nyholt DR, Morris AP, Missmer SA, Montgomery GW, Zondervan KT | title = Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets | journal = Human Reproduction Update | volume = 20 | issue = 5 | pages = 702–716 | date = September 2014 | pmid = 24676469 | pmc = 4132588 | doi = 10.1093/humupd/dmu015 }}</ref><ref name="Gene94025">{{cite web|url=https://www.ncbi.nlm.nih.gov/gene/94025|title=MUC16 mucin 16, cell surface associated [Homo sapiens (human)] - Gene - NCBI|website=ncbi.nlm.nih.gov|access-date=13 November 2018|archive-date=13 November 2018|archive-url=https://web.archive.org/web/20181113225150/https://www.ncbi.nlm.nih.gov/gene/94025|url-status=live}}</ref><ref name="Gene2335">{{cite web|url=https://www.ncbi.nlm.nih.gov/gene/2335|title=FN1 fibronectin 1 [Homo sapiens (human)] - Gene - NCBI|website=ncbi.nlm.nih.gov|access-date=13 November 2018|archive-date=8 June 2019|archive-url=https://web.archive.org/web/20190608083214/https://www.ncbi.nlm.nih.gov/gene/2335|url-status=live}}</ref><ref name="Sapkota Steinthorsdottir Morris Fassbender p. ">{{cite journal | vauthors = Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, O D, Peterse D, Rexrode KM, Ridker PM, Schork AJ, MacGregor S, Martin NG, Becker CM, Adachi S, Yoshihara K, Enomoto T, Takahashi A, Kamatani Y, Matsuda K, Kubo M, Thorleifsson G, Geirsson RT, Thorsteinsdottir U, Wallace LM, Yang J, Velez Edwards DR, Nyegaard M, Low SK, Zondervan KT, Missmer SA, D'Hooghe T, Montgomery GW, Chasman DI, Stefansson K, Tung JY, Nyholt DR | title = Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism | journal = Nature Communications | volume = 8 | issue = 1 | pages = 15539 | date = May 2017 | pmid = 28537267 | pmc = 5458088 | doi = 10.1038/ncomms15539 | publisher = Springer Science and Business Media LLC | bibcode = 2017NatCo...815539S }}</ref>
{| class="wikitable"
|-
!Chromosome
!Gene/cytoband
!Gene Product
!Function
|-
|1
|''[[WNT4]]''/1p36.12
|Wingless-type MMTV integration site family member 4
|Vital for the development of the female reproductive organs
|-
|2
|''[[GREB1]]''/2p25.1
|Growth regulation by [[estrogen]] in [[breast cancer]] 1/Fibronectin 1
|Early response gene in the estrogen regulation pathway/Cell adhesion and migration processes
|-
|2
|''ETAA1''/2p14
|(ETAA1 Activator Of ATR Kinase) is a protein-coding gene.
|Diseases associated with ETAA1 include Adult [[Lymphoma]] and [[Restless legs syndrome|Restless Legs Syndrome]]
|-
|2
|''IL1A''/2q13
|[[Interleukin 1 alpha]] (IL-1α) is encoded by the ''IL1A'' gene.
|Interleukin 1 alpha (IL-1α) is encoded by the ''IL1A'' gene.
|-
|4
|''KDR''/4q12
|''KDR'' is the human gene encoding [[kinase insert domain receptor]] also known as vascular endothelial growth factor receptor 2 (VEGFR-2)
|Primary mediator of [[VEGF receptor|VEGF-induced]] [[Endothelium|endothelial]] proliferation, survival, migration, tubular morphogenesis and sprouting<ref>{{cite web |title=GeneCards®: The Human Gene Database |url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=KDR&keywords=kdr |website=www.genecards.org |publisher=Weizmann Institute of Science |access-date=7 February 2024 |archive-date=7 February 2024 |archive-url=https://web.archive.org/web/20240207163420/https://www.genecards.org/cgi-bin/carddisp.pl?gene=KDR&keywords=kdr |url-status=live }}</ref>
|-
|6
|''[[ID4]]''/6p22.3
|Inhibitor of DNA binding 4
|Ovarian oncogene, biological function unknown
|-
|7
|7p15.2
|[[Transcription factor]]s
|Influence transcriptional regulation of uterine development
|-
|9
|''[[CDKN2BAS]]''/9p21.3
|Cyclin-dependent kinase inhibitor 2B antisense RNA
|Regulation of tumour suppressor genes
|-
|12
|''[[VEZT]]''/12q22
|Vezatin, an adherens junction transmembrane protein
|Tumor suppressor gene
|}
There are many findings of altered [[gene expression]] and [[epigenetics]], but both of these can also be a secondary result of, for example, environmental factors and altered metabolism. Examples of altered gene expression include that of [[miRNA]]s.<ref name=Fauser2011/>