Literature DB >> 33569750

Frequency of MED12 Mutation in Relation to Tumor and Patient's Clinical Characteristics: a Meta-analysis.

Chao He1, William Nelson1,2, Hui Li3,4,5, Ya-Dong Xu3,5, Xue-Jiao Dai3,5, Ying-Xiong Wang1, Yu-Bin Ding1, Yan-Ping Li6, Tian Li7,8.   

Abstract

Mediator complex subunit 12 (MED12) is the most frequently mutated gene in uterine leiomyomas (ULs)-with a frequency of up to 85%-suggesting that it plays key roles in the pathogenesis of ULs. However, there is no established relationship between genetic alteration and other risk factors of UL pathogenesis such as the patient's age, weight, and race. In this meta-analysis, we established an association between these risk factors and the frequency of MED12 mutation. We also established the relationship between MED12 mutation with the number and size of tumors in a patient. A systematic literature search was performed for studies published by May 2020 and performed a meta-analysis according to PRISMA guidelines. Twenty-five studies were included in the analysis, representing 3151 tissue samples. MED12 mutations were more common in Black (74.5%) as compared to White (65.8%) and Asian (53.2%) patients. There was no significant relationship between the patient's age and the frequency of mutations (OR 0.73, 95% CI 0.38 to 1.41). MED12 mutations were common in patients barring small-sized (OR 1.46, 95% CI 1.09 to 1.95) multiple (OR 0.39, 95% CI 0.17 to 0.92) tumors. For the patient's weight, studies were few and the outcome was not statistically significant. This meta-analysis provides valuable information on the relationship between the patient's clinical characteristics and frequency of MED12 mutation among patients barring ULs, which is relevant for understanding the pathogenesis of ULs.Protocol registration: The protocol was registered in PROSPERO with registration number CRD42019123439.
© 2021. Society for Reproductive Investigation.

Entities:  

Keywords:  Genetics; MED12; Mutation; Uterine fibroids; Uterine leiomyoma; Uterine tumors

Mesh:

Substances:

Year:  2021        PMID: 33569750     DOI: 10.1007/s43032-021-00473-x

Source DB:  PubMed          Journal:  Reprod Sci        ISSN: 1933-7191            Impact factor:   3.060


  38 in total

Review 1.  Fibroids and reproductive outcomes: a systematic literature review from conception to delivery.

Authors:  Peter C Klatsky; Nam D Tran; Aaron B Caughey; Victor Y Fujimoto
Journal:  Am J Obstet Gynecol       Date:  2008-04       Impact factor: 8.661

Review 2.  Molecular genetics and racial disparities of uterine leiomyomas.

Authors:  Essam-Eldin R Othman; Ayman Al-Hendy
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2008-03-25       Impact factor: 5.237

3.  Growth disparities in uterine leiomyomas associated with MED12 mutation.

Authors:  Hortensia Ferrero
Journal:  Fertil Steril       Date:  2018-12-06       Impact factor: 7.329

Review 4.  Uterine fibroids.

Authors:  Elizabeth A Stewart; Shannon K Laughlin-Tommaso; William H Catherino; Sujata Lalitkumar; Devashana Gupta; Beverley Vollenhoven
Journal:  Nat Rev Dis Primers       Date:  2016-06-23       Impact factor: 52.329

Review 5.  Epidemiology and Risk Factors of Uterine Fibroids.

Authors:  Dora Pavone; Sara Clemenza; Flavia Sorbi; Massimiliano Fambrini; Felice Petraglia
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2017-10-01       Impact factor: 5.237

Review 6.  Endocrinology of uterine fibroids: steroid hormones, stem cells, and genetic contribution.

Authors:  Molly B Moravek; Serdar E Bulun
Journal:  Curr Opin Obstet Gynecol       Date:  2015-08       Impact factor: 1.927

Review 7.  Pregnancy outcome and uterine fibroids.

Authors:  Fabio Parazzini; Luca Tozzi; Stefano Bianchi
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2015-11-25       Impact factor: 5.237

8.  Infertility and uterine fibroids.

Authors:  Leonidas I Zepiridis; Grigoris F Grimbizis; Basil C Tarlatzis
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2015-12-23       Impact factor: 5.237

9.  Racial and ethnic differences in the pathogenesis and clinical manifestations of uterine leiomyoma.

Authors:  William H Catherino; Heba M Eltoukhi; Ayman Al-Hendy
Journal:  Semin Reprod Med       Date:  2013-08-09       Impact factor: 1.303

10.  Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement.

Authors:  David Moher; Alessandro Liberati; Jennifer Tetzlaff; Douglas G Altman
Journal:  PLoS Med       Date:  2009-07-21       Impact factor: 11.069

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  3 in total

Review 1.  Vascular biology of uterine fibroids: connecting fibroids and vascular disorders.

Authors:  Gregory W Kirschen; Abdelrahman AlAshqar; Mariko Miyashita-Ishiwata; Lauren Reschke; Malak El Sabeh; Mostafa A Borahay
Journal:  Reproduction       Date:  2021-07-08       Impact factor: 3.923

2.  Aberrant R-loop-induced replication stress in MED12-mutant uterine fibroids.

Authors:  Sribalasubashini Muralimanoharan; Ross Shamby; Nicholas Stansbury; Robert Schenken; Barbara de la Pena Avalos; Samin Javanmardi; Eloise Dray; Patrick Sung; Thomas G Boyer
Journal:  Sci Rep       Date:  2022-04-13       Impact factor: 4.379

Review 3.  Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment.

Authors:  Qiwei Yang; Michal Ciebiera; Maria Victoria Bariani; Mohamed Ali; Hoda Elkafas; Thomas G Boyer; Ayman Al-Hendy
Journal:  Endocr Rev       Date:  2022-07-13       Impact factor: 25.261

  3 in total

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