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[CYP1B1基因多态性与子宫内膜异位症易感性的关联]

[Association of the CYP1B1 gene polymorphism with susceptibility to endometriosis].

作者信息

Li Yi-ge, Wang Xin

机构信息

Department of Obstetrics and Gynaecology, the Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China.

出版信息

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.

Abstract

OBJECTIVE

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.

METHODS

Allele-specific polymerase chain reaction was used to analyze the gene polymorphisms in 55 cases of endometriosis and 45 cases of normal controls.

RESULTS

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).

CONCLUSION

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.

摘要

目的

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。

方法

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。

结果

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)。

结论

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。

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