p27基因中的V109G多态性与子宫内膜异位症相关。
The V109G polymorphism in the p27 gene is associated with endometriosis.
作者信息
Camargo-Kosugi Cíntia M, da Silva Ismael D C G, Sato Hélio, D'Amora Paulo, Carvalho Cristina V, Nogueira-de-Souza Naiara C, Girão Manoel J C B, Schor Eduardo
机构信息
Federal University of São Paulo, Escola Paulista de Medicina, Gynecology Department, Sao Paulo, SP, Brazil.
出版信息
Eur J Obstet Gynecol Reprod Biol. 2009 Aug;145(2):180-3. doi: 10.1016/j.ejogrb.2009.04.027. Epub 2009 Jun 2.
OBJECTIVE
To investigate the prevalence of the p27 gene polymorphism in women with endometriosis.
STUDY DESIGN
Transversal case-control study. Genomic DNA was extracted from cells collected from buccal swabs. The p27 V109G polymorphism was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in a hospital-based Brazilian population.
RESULTS
We analysed the 104 patients and 109 control subjects. The distribution of genotype and allele frequencies of p27 V109G polymorphism was significantly different between the endometriosis cases and healthy women (p=0.016 and 0.002). Women who had at least one mutated allele presented twofold chances for endometriosis development (OR=1.9; 95% CI, 1.120-3.343).
CONCLUSION
The polymorphic variant at codon 109 of the p27 gene seems to be associated with higher risk of endometriosis development.
目的
研究子宫内膜异位症女性中p27基因多态性的患病率。
研究设计
横向病例对照研究。从口腔拭子采集的细胞中提取基因组DNA。在巴西一家医院的人群中，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法研究p27 V109G多态性。
结果
我们分析了104例患者和109例对照受试者。p27 V109G多态性的基因型和等位基因频率分布在子宫内膜异位症病例和健康女性之间存在显著差异（p = 0.016和0.002）。至少有一个突变等位基因的女性患子宫内膜异位症的几率增加两倍（OR = 1.9；95% CI，1.120 - 3.343）。
结论
p27基因第109密码子的多态性变体似乎与子宫内膜异位症发生的较高风险相关。
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