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

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Author(s)
하은영이승미정혜원권선영신소진
Alternative Author(s)
Ha, Eun YoungLee, Seung MeeChung, Hye WonKwon, Sun YoungShin, So Jin
Issued Date
2020
Keyword
uterine leiomyomapolymorphismpersonalized medicineFANCA
Abstract
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.
Department
Dept. of Biochemistry (생화학)
Dept. of Obstetrics & Gynecology (산부인과학)
Dept. of Pathology (병리학)
Publisher
School of Medicine (의과대학)
Citation
Eunyoung Ha. (2020). FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea. Journal of Personalized Medicine, 10(4), 228-. doi: 10.3390/jpm10040228
Type
Article
ISSN
2075-4426
DOI
10.3390/jpm10040228
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/43464
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Biochemistry (생화학)
1. School of Medicine (의과대학) > Dept. of Obstetrics & Gynecology (산부인과학)
1. School of Medicine (의과대학) > Dept. of Pathology (병리학)
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