Analysis of MED-12 Mutations in Uterine Leiomyomas of Nigerian Women.

OBJECTIVE: To identify, characterize and determine the frequency of MED-12 exon 2 mutations in the uterine leiomyomas (ULs) of Nigerian women. MED-12 mutations are the most common molecular subtype of uterine leiomyomas and have been linked with ULs in Western populations. The frequency of MED-12 mutations among Nigerian women has not been established. DESIGN: Cross-sectional study. SUBJECTS: Nigerian women with uterine leiomyomas undergoing myomectomy. MAIN OUTCOME MEASURE(S): Fibroid weight and other characteristics such as age, weight, BMI, parity and age at menarche. Identification and frequency of MED-12 mutations. DNA was extracted from the fibroid and adjacent myometrial tissues, and the MED-12 gene (exon 2) was amplified by PCR, followed by Sanger sequencing. RESULTS: The sequencing data showed that 54.9% (56/102) of the fibroid tissues had MED-12 mutations compared with the adjacent myometrium. Of this percentage, 49.01% was found in codon 44, and c.131 G>A was the most frequent (24.51%), followed by c.130 G>C (5.88%). Other mutations were found in codons 43 (c.128 A>C) and 36 (c.107 T>G). Three samples had a mutation at intron 1 (c.100-8T>A). In summary, we identified 11 variants at four positions. Further computational prediction analysis showed that of the 11 variants, only 27.3% were tolerated, and all variants were either disease-causing, passenger mutations or probably damaging. However, there was no significant difference between the characteristics of the women whose ULs were MED-12 positive and negative. CONCLUSION: Our study represents the first comprehensive analysis of MED-12 mutations in ULs of Nigerian women. This study indicates that analyzing MED-12 mutations in ULs of Nigerian women is essential for clinical practice and informing precision medicine for Nigerian women with ULs.