The relationship between the transcription activity difference of estrogen receptor α polymorphism with hypermastia

Objective To explore the relationship between the transcription activity difference of estrogen receptor (ER) α polymorphism with hypermastia. Methods The macromastia samples (n=28) and normal samples (n=69) were collected. The reporter gene and dual-luciferase reporter gene technology was used to regulate transcription of the gene mutation. Results (1) As compared with normal control group (2.66±1.41), the relative activity of luciferase enzyme in hypermastia group (3.13±1.17) was significantly elevated (P 0.05). (3) The transcriptional expression of ER gene showing pp genetype was significantly lower than Pp and PP genetypes (P 0.05). Conclusion The regulatory sequence of ERα gene intron 1 significantly improved the level of the transcriptional expression of ERα in hypermastia, which may be a part reason of the hypermastia formation. Although we can observe that the expression of ERα gene was up-regulated in XX and PP genetypes of the hypermastia, they may be not the main causes of formation in hypermastia by combining the ERα polymorphism genotype analysis. Key words: Estrogen receptor; Gene polymorphism; Breast hypertrophy