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FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea

Uterine leiomyomas are the most common benign gynecologic tumors. This study was aimed to identify single nucleotide polymorphism of Fanconi anemia complementation group A (FANCA), associated with the rate of proliferation in uterine leiomyomas. In vitro study of patient-derived primary-cultured lei...

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Autores principales: Ha, Eunyoung, Lee, Seungmee, Lee, So Min, Jung, Jeeyeon, Chung, Hyewon, Choi, Eunsom, Kwon, Sun Young, Cha, Min Ho, Shin, So-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712130/
https://www.ncbi.nlm.nih.gov/pubmed/33202820
http://dx.doi.org/10.3390/jpm10040228
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author Ha, Eunyoung
Lee, Seungmee
Lee, So Min
Jung, Jeeyeon
Chung, Hyewon
Choi, Eunsom
Kwon, Sun Young
Cha, Min Ho
Shin, So-Jin
author_facet Ha, Eunyoung
Lee, Seungmee
Lee, So Min
Jung, Jeeyeon
Chung, Hyewon
Choi, Eunsom
Kwon, Sun Young
Cha, Min Ho
Shin, So-Jin
author_sort Ha, Eunyoung
collection PubMed
description Uterine leiomyomas are the most common benign gynecologic tumors. This study was aimed to identify single nucleotide polymorphism of Fanconi anemia complementation group A (FANCA), associated with the rate of proliferation in uterine leiomyomas. In vitro study of patient-derived primary-cultured leiomyoma cells and direct sequencing of fresh frozen leiomyoma from each subject was conducted. Leiomyomas obtained from 44 patients who had underwent surgery were both primary-cultured and freshly frozen. Primary-cultured leiomyoma cells were divided into, according to the rate of proliferation, fast and slow groups. Single nucleotide polymorphism (SNP) of FANCA were determined from fresh frozen tissues of each patient using direct sequencing. Direct sequencing revealed a yet unidentified role of FANCA, a caretaker in the DNA damage-response pathway, as a possible biomarker molecule for the prediction of uterine leiomyoma proliferation. We identified that rs2239359 polymorphism, which causes a missense mutation in FANCA, is associated with the rate of proliferation in uterine leiomyomas. The frequency of C allele in the fast group was 35.29% while that in slow group was 11.11% (odds ratio (OR) 4.036 (1.176–13.855), p = 0.0266). We also found that the TC + CC genotype was more frequently observed in the fast group compared with that in the slow group (OR 6.44 (1.90–31.96), p = 0.0227). Taken together, the results in the current study suggested that a FANCA missense mutation may play an important regulatory role in the proliferation of uterine leiomyoma and thus may serve as a prognostic marker.
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spelling pubmed-77121302020-12-04 FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea Ha, Eunyoung Lee, Seungmee Lee, So Min Jung, Jeeyeon Chung, Hyewon Choi, Eunsom Kwon, Sun Young Cha, Min Ho Shin, So-Jin J Pers Med Article Uterine leiomyomas are the most common benign gynecologic tumors. This study was aimed to identify single nucleotide polymorphism of Fanconi anemia complementation group A (FANCA), associated with the rate of proliferation in uterine leiomyomas. In vitro study of patient-derived primary-cultured leiomyoma cells and direct sequencing of fresh frozen leiomyoma from each subject was conducted. Leiomyomas obtained from 44 patients who had underwent surgery were both primary-cultured and freshly frozen. Primary-cultured leiomyoma cells were divided into, according to the rate of proliferation, fast and slow groups. Single nucleotide polymorphism (SNP) of FANCA were determined from fresh frozen tissues of each patient using direct sequencing. Direct sequencing revealed a yet unidentified role of FANCA, a caretaker in the DNA damage-response pathway, as a possible biomarker molecule for the prediction of uterine leiomyoma proliferation. We identified that rs2239359 polymorphism, which causes a missense mutation in FANCA, is associated with the rate of proliferation in uterine leiomyomas. The frequency of C allele in the fast group was 35.29% while that in slow group was 11.11% (odds ratio (OR) 4.036 (1.176–13.855), p = 0.0266). We also found that the TC + CC genotype was more frequently observed in the fast group compared with that in the slow group (OR 6.44 (1.90–31.96), p = 0.0227). Taken together, the results in the current study suggested that a FANCA missense mutation may play an important regulatory role in the proliferation of uterine leiomyoma and thus may serve as a prognostic marker. MDPI 2020-11-13 /pmc/articles/PMC7712130/ /pubmed/33202820 http://dx.doi.org/10.3390/jpm10040228 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Ha, Eunyoung
Lee, Seungmee
Lee, So Min
Jung, Jeeyeon
Chung, Hyewon
Choi, Eunsom
Kwon, Sun Young
Cha, Min Ho
Shin, So-Jin
FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
title FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
title_full FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
title_fullStr FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
title_full_unstemmed FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
title_short FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
title_sort fanca polymorphism is associated with the rate of proliferation in uterine leiomyoma in korea
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712130/
https://www.ncbi.nlm.nih.gov/pubmed/33202820
http://dx.doi.org/10.3390/jpm10040228
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