Li Yi-ge, Wang Xin
Department of Obstetrics and Gynaecology, the Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):66-9. doi: 10.3760/cma.j.issn.1003-9406.2009.01.015.
To study the association between gene polymorphisms of cytochrome P450 1B1 (CYP1B1) in exon 2 codon 119 (G-T) and exon 3 codon 432 (C-G) and the susceptibility to endometriosis.
Allele-specific polymerase chain reaction was used to analyze the gene polymorphisms in 55 cases of endometriosis and 45 cases of normal controls.
The frequencies of alleles G and T in codon 119 G/T of CYP1B1 gene showed a significant difference between the endometriosis group and the control group (P<0.05), with an odds ratio of 2.061. There was a significant difference in the frequencies of genotypes G/G, G/T and T/T between the two groups (P<0.05). Compared with wild-type G/G, the susceptibility of endometriosis with genotypes T/T and G/T was 2.625 and 3.214 fold, respectively. In the population with combined genotypes of CYP1B1 codon 119 GT or GG-codon 432 CC, statistically significant difference was observed between cases and controls (GT+CC vs GG+CC, OR=2.976, P<0.05).
The gene polymorphisms of CYP1B1 in exon 2 codon 119 may be a genetic risky factor for endometriosis. The combination of CYP1B1 -GT and CYP1B1 -CC may act as a risky factor in the development of endometriosis.
研究细胞色素P450 1B1(CYP1B1)基因外显子2第119密码子(G-T)和外显子3第432密码子(C-G)的基因多态性与子宫内膜异位症易感性之间的关系。
采用等位基因特异性聚合酶链反应分析55例子宫内膜异位症患者和45例正常对照者的基因多态性。
CYP1B1基因第119密码子G/T的等位基因G和T的频率在子宫内膜异位症组和对照组之间存在显著差异(P<0.05),优势比为2.061。两组间基因型G/G、G/T和T/T的频率存在显著差异(P<0.05)。与野生型G/G相比,基因型T/T和G/T的子宫内膜异位症易感性分别为2.625倍和3.214倍。在CYP1B1第119密码子GT或GG-第432密码子CC联合基因型的人群中,病例组和对照组之间观察到统计学显著差异(GT+CC vs GG+CC,OR=2.976,P<0.05)。
CYP1B1基因外显子2第119密码子的基因多态性可能是子宫内膜异位症的遗传危险因素。CYP1B1 -GT和CYP1B1 -CC的联合可能在子宫内膜异位症的发生发展中起危险因素的作用。