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

• Main Authors: Eunyoung Ha, Seungmee Lee, So Min Lee, Jeeyeon Jung, Hyewon Chung, Eunsom Choi, Sun Young Kwon, Min Ho Cha, So-Jin Shin
• Format: Article
• Language: English
• Published: MDPI AG 2020-11-01
• Series: Journal of Personalized Medicine
• Subjects: uterine leiomyoma; polymorphism; personalized medicine; FANCA
• Online Access: https://www.mdpi.com/2075-4426/10/4/228

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), <i>p</i> = 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), <i>p</i> = 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.