CYP17基因多态性与巴西女性子宫肌瘤风险的关联。

Association of the CYP17 gene polymorphism with risk for uterine leiomyoma in Brazilian women.

作者信息

Vieira Lucinda Coelho Esperança, Gomes Mariano Tamura Vieira, Castro Rodrigo de Aquino, de Souza Naiara Correia Nogueira, da Silva Ismael Dale Cotrim Guerreiro, Baracat Edmund Chada, Girão Manoel Joao Batista Castello

机构信息

Universidade Federal de Sao Paulo, Sao Paulo, Brazil.

出版信息

Gynecol Endocrinol. 2008 Jul;24(7):373-7. doi: 10.1080/09513590802131830.

DOI:10.1080/09513590802131830

PMID:18645709

Abstract

BACKGROUND

Uterine leiomyoma is the most common pelvic tumor in women of reproductive age. It is well established that endogenous sex hormones are involved in disease pathogenesis, and polymorphisms in genes encoding enzymes which act in the metabolism of steroid hormones, such as that for cytochrome P450c17alpha enzyme (CYP17), may therefore play a role in fibroid genesis. Variations in this gene have been thought to influence the susceptibility to hormone-related diseases. A single nucleotide polymorphism (T-->C) [rs1042386] in promoter region of CYP17 may alter its transcription. The present study was conducted to investigate the association between this polymorphism and the presence of uterine leiomyoma in Brazilian women.

METHODS

Genotyping of CYP17 was performed in 121 uterine fibroid patients and 120 unaffected women, using polymerase chain reaction and restriction fragment-length polymorphism analysis.

RESULTS

No significant difference in the CYP17 genotype distribution was noted between cases and controls (p = 0.165).

CONCLUSION

These findings suggest that the CYP17 gene polymorphism studied is unlikely to be associated with risk for uterine leiomyoma in Brazilian women.

摘要

背景

子宫平滑肌瘤是育龄期女性最常见的盆腔肿瘤。内源性性激素参与疾病发病机制已得到充分证实，因此，编码参与甾体激素代谢的酶的基因多态性，如细胞色素P450c17α酶（CYP17）的基因多态性，可能在肌瘤发生中起作用。该基因的变异被认为会影响对激素相关疾病的易感性。CYP17启动子区域的单核苷酸多态性（T→C）[rs1042386]可能会改变其转录。本研究旨在调查这种多态性与巴西女性子宫平滑肌瘤发生之间的关联。