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
Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Gynecol Endocrinol. 2008 Jul;24(7):373-7. doi: 10.1080/09513590802131830.
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.
Genotyping of CYP17 was performed in 121 uterine fibroid patients and 120 unaffected women, using polymerase chain reaction and restriction fragment-length polymorphism analysis.
No significant difference in the CYP17 genotype distribution was noted between cases and controls (p = 0.165).
These findings suggest that the CYP17 gene polymorphism studied is unlikely to be associated with risk for uterine leiomyoma in Brazilian women.
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。
采用聚合酶链反应和限制性片段长度多态性分析，对121例子宫肌瘤患者和120例未受影响的女性进行CYP17基因分型。
病例组和对照组之间CYP17基因型分布无显著差异（p = 0.165）。
这些发现表明，所研究的CYP17基因多态性不太可能与巴西女性子宫平滑肌瘤的风险相关。
