[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-331967-105":59,"doc-detail-331967-en":131},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":124,"head_meta":126,"extra_data":128,"updated_unix":130},105,"en","gene-variants-polymorphisms-and-uterine-leiomyoma-an-updated-review","Gene variants polymorphisms and uterine leiomyoma - an updated review","","Uterine leiomyoma, commonly called fibroids, are benign uterine muscle tumors affecting more than 70% of women of reproductive age and often causing heavy menstrual bleeding, pelvic pain, and pressure on surrounding organs. Although hormonal influences involving estrogen and progesterone are implicated, genetic contributions remain complex, with reported single-nucleotide polymorphism findings showing inconsistencies alongside emerging signals. This review consolidates literature on genetic variants linked to uterine leiomyoma and evaluates genetic changes as potential diagnostic and prognostic biomarkers, highlighting directions for future targeted therapies.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/gene-variants-polymorphisms-and-uterine-leiomyoma-an-updated-review/331967/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/gene-variants-polymorphisms-and-uterine-leiomyoma-an-updated-review/331967.png","ImageObject",300,407,{"name":92,"@type":93},"Olivia Brown","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-09-21",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",12,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What are uterine leiomyoma (fibroids) and what symptoms can they cause?","Question",{"text":113,"@type":114},"Uterine leiomyoma are benign tumors arising in the uterine muscular wall. They can present with heavy menstrual bleeding, pelvic pain, and pressure on nearby organs.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How do hormones and genetics relate to the development of uterine leiomyoma?",{"text":118,"@type":114},"Hormonal factors, particularly estrogen and progesterone, are believed to contribute, while genetic findings involve complex variant associations. The review notes that SNP-related results have shown inconsistencies, despite promising leads.",{"name":120,"@type":111,"acceptedAnswer":121},"Which genetic changes are highlighted as common molecular contributors?",{"text":122,"@type":114},"Somatic mutations in MED12 account for many cases, and other alterations include HMGA2 over-expression, disruption of the COL4A5-COL4A6 locus, and biallelic loss of FH.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},331967,1790380122,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":52,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145},16904993612988,"https://ap-avatar.wpscdn.com/davatar_a8503ba1806abce46bf441b54a3ca4cd","TYPE Review  \nPUBLISHED 20 March 2024  \nDOI 10.3389/fgene.2024.1330807  \nOPEN ACCESS  \nEDITED BY  \nDavid J. Riese,  \nAuburn University, United States  \nREVIEWED BY  \nEdgar Ricardo Vázquez-Martínez,  \nNational Autonomous University of Mexico, Mexico  \nHong Zhang,  \nUniversity of Basel, Switzerland  \n*CORRESPONDENCE  \nPawan K. Dubey,  \n [pkdubey@bhu.ac.in](pkdubey@bhu.ac.in)  \nRECEIVED 31 October 2023  \nACCEPTED 22 February 2024  \nPUBLISHED 20 March 2024  \nCITATION  \nUpadhyay S and Dubey PK (2024), Gene variants polymorphisms and uterine leiomyoma: an updated review.  \nFront. Genet. 15:1330807 .  \ndoi: 10.3389/fgene.2024.1330807  \nCOPYRIGHT  \n© 2024 Upadhyay and Dubey. This is an openaccess article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.  \nGene variants polymorphisms and uterine leiomyoma: an  \nupdated review  \nSonal Upadhyay and Pawan K. Dubey*  \nCentre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India  \nUterine leiomyoma, commonly referred to as fibroids, is a benign tumor that develops in the muscular wall of the uterus. These growths are non-cancerous and can vary in size, ranging from tiny nodules to larger masses. Uterine leiomyomas often occur during a woman ’s reproductive years and can lead to symptoms such as heavy menstrual bleeding, pelvic pain, and pressure on nearby organs. While the exact cause is not fully understood, hormonal factors, particularly estrogen and progesterone, are believed to play a role in their development. The exploration of connections between genetic variants and uterine leiomyoma has captivated scientific attention for numerous years. The results from investigations remain a subject of intrigue within the scientific community. To date, the findings regarding the relationships between single nucleotide polymorphisms (SNPs) and uterine leiomyoma have exhibited some inconsistencies. However, amidst these inconsistencies, several promising outcomes have emerged that hold the potential to shape future research endeavors. These promising leads could pave the way for the development of innovative targeted therapies and novel prognostic biomarkers. This reviewspecifically centers on accentuating the existing literature data concerning genetic variants that have been explored for their potential connections to uterine leiomyoma. Additionally, it underscores the prospects of employing genetic variations as diagnostic and prognostic biomarkers for individuals diagnosed with uterine leiomyoma.  \nKEYWORDS  \nUterine leiomyoma, single nucleotide polymorphism, biomarker, genetic variants, fibroid  \nIntroduction  \nOriginally referred to as “uterine stones,” uterine leiomyoma (UL) lesions were later known as “scleromas” during the second century AD. The term “leiomyoma” was introduced in the 1860s. Today, uterine leiomyoma also known as uterine fibroid are recognized as the most prevalent pelvic tumors among women of reproductive age, impacting over 70% of women worldwide, with a higher incidence among women of color. These leiomyoma exhibit a diverse range of composition, size, and quantity both among women and within the same individual (Baird et al., 2003; Stewart et al., 2016; Wise and Laughlin-Tommaso, 2016) .  \nThe occurrence of uterine fibroids is on the rise in specific populations, notably among African American women. Race is the primary and commonly cited risk factor, affecting African American women at a higher rate compared to other groups. Additionally, other risk factors for uterine fibroids include advancing age, being in a premenopausal state, not  \nFrontiers in Genetics 01 [front","cbCaiusoHbkx58ao","https://ap.wps.com/l/cbCaiusoHbkx58ao","pdf",1033323,"English","# Introduction\n# Risk factors and epidemiology\n# Genetic mechanisms and molecular biomarkers\n# Multifactorial etiology and emerging research prospects\n# Genetic variants as diagnostic and prognostic biomarkers","[{\"question\":\"What are uterine leiomyoma (fibroids) and what symptoms can they cause?\",\"answer\":\"Uterine leiomyoma are benign tumors arising in the uterine muscular wall. They can present with heavy menstrual bleeding, pelvic pain, and pressure on nearby organs.\"},{\"question\":\"How do hormones and genetics relate to the development of uterine leiomyoma?\",\"answer\":\"Hormonal factors, particularly estrogen and progesterone, are believed to contribute, while genetic findings involve complex variant associations. The review notes that SNP-related results have shown inconsistencies, despite promising leads.\"},{\"question\":\"Which genetic changes are highlighted as common molecular contributors?\",\"answer\":\"Somatic mutations in MED12 account for many cases, and other alterations include HMGA2 over-expression, disruption of the COL4A5-COL4A6 locus, and biallelic loss of FH.\"}]","Gene variants polymorphisms and uterine leiomyoma - an updated review | PDF",1789996050,25]