CYP1B1基因L432V多态性与散发子宫内膜癌风险关系的研究

目的探讨CYP1B1基因L432V多态性与子宫内膜癌发生危险性的关系。方法用等位基因特异性PCR（AS-PCR）法,对72例子宫内膜癌患者和80例正常女性的CYP1B1 L432V多态位点进行检测,确定出多态性的3种基因型,即野生型C/C、杂合型C/G、突变型G/G;免疫组化S-P法进一步研究雌激素受体α（ERα）的表达是否受CYP1B1基因多态性的影响。结果CYP1B1基因L432V多态性C/C、C/G、G/G三种基因型分布频率,子宫内膜患者组分别为47.2%、36.1%和16.7%,对照组分别为68.8%、23.8%和7.5%;子宫内膜癌患者组C、G等位基因频率为65.3%,34.7%,对照组为80.6%,19.4%。CYP1B1 L432V多态性基因型及等位基因型在两组间分布频率的差异有统计学意义（P〈0.05）。基因型C/G与C/C比较,G/G与C/C比较OR值分别为2.214（95%CI 1.067-4.593）倍和3.235（95%CI 1.111-9.425）倍;子宫内膜癌ERα表达检测发现,突变基因型G/G、C/G基因型者ERα阳性表达率高于C/C野生基因型（P〈0.05）。结论CYP1B1 L432V多态位点3种基因型的分布与子宫内膜癌发病风险有一定关联,突变基因型增加了子宫内膜癌的发病风险,且与ER的表达相关。

Association of genetic polymorphism in CYP1B1 L432V with risk of sporadic endometrial carcinoma

Objective To investigate the relationship between the CYP1B1 L432V polymorpbism and the risk of sporadic endometrial carcinoma. Methods Gene polymorphism in exon 3 codon 432 （C-G） of CYP1B1 was analyzed using allele-specific polymerase chain reaction method （AS-PCR）in 72 cases of endometrial cancer and 80 healthy women. The genotypes identified were labeled as homozygous wild type （C/C）, heterozygous variant （C/G）, or homozygous variant （G/ G）. The expression of estrogen receptor-α （ERα） was detected using immumohistochemical S-P method. Results The prevalence rates of CYP1B1 L432V genotypes C/C,C/G and G/G in endometrial carcinoma were 47.2%,36.1% and 16.7%, respectively, and those in the controls were 68.8%, 23.8% and 7.5%,respectively. The frequencies of CYP1B1 C and G alleles were 65.3% and 34.7% in endometrial carcinoma; and 80.6%, 19.4% in the controls respectively （P 〈 0.05）. Compared with wild-type C/C,the susceptibility of endometrial carcinoma with the genotypes of homozygotic mutation G/G and heterozygotic mutation C/G was increased by 3. 235 （95%CI 1. 111-9.425） and 2. 214 （95%CI 1. 067 - 4. 593） respectively. Moreover, the positive expression of ERα in genotype G/G,C/G was higher than that in wild genotype C/C （P〈 0.05）. Conclusion The gene polymorphism of CYP1B1 in exon 3 condon 432 （C-G） might be a genetic risk factor of endometrial carcinoma,which is positively correlated with ERα expression.