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. The MED-12 mutations are the most common molecular subtype of ULs 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 ULs undergoing myomectomy.

MAIN OUTCOME MEASURES: Fibroid weight and other characteristics such as age, weight, body mass index, parity, and age at menarche. Identification and frequency of MED-12 mutations. Deoxyribonucleic acid was extracted from the fibroid and adjacent myometrial tissues, and the MED-12 gene (exon 2) was amplified by polymerase chain reaction, 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

To our knowledge, this 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.