Bianco Bianca, Christofolini Denise Maria, Brandes Ariel, Lerner Tatiana Goberstein, Gonçalves-Filho Rubens Paulo, Souza Angela Mara Bentes de, Barbosa Caio Parente
Departamento de Ginecologia e Obstetrícia, Santo André, SP, Brasil.
Rev Bras Ginecol Obstet. 2011 Jan;33(1):37-42. doi: 10.1590/s0100-72032011000100006.
to evaluate the frequency of TP53 codon 72 polymorphism in infertile women with endometriosis, women with idiopathic infertility, controls and its relation to the disease.
a case-control study that included 198 infertile women with endometriosis, 70 women with idiopathic infertility and 169 fertile women without endometriosis as control. Detection of TP53 codon 72 gene polymorphism (rs1042522, Arg/C:Pro/G), that promotes a C/G exchange in the coding region of the gene, was performed by real time Polymerase Chain Reaction (PCR), using the TaqMan system of primers, that flank the implicated region and probes labeled with different fluorescent dyes, one for allele C and other for allele G. When two dyes were observed, the patient was considered to be heterozygous CG. In the presence of only one dye, the individual was considered to be homozygous CC or GG. The χ2 test was used to compare allele and genotype frequencies between groups. All p-values were two-tailed and a p-value <0.05 was considered to be statistically significant.
we found no statistically significant difference in the distribution of TP53 codon 72 polymorphism genotypes CC, CG or GG (p=0.7) and alleles C or G (p=0.4) between infertile patients with endometriosis and controls (p=0.4), regardless of the stage of the disease. In relation to infertility, no statistically significant difference in the genotype or allele distribution (p=1.0 and p=0.9, respectively) was observed between idiopathic infertile women and controls. Considering the dominant inheritance model, again, no statistically significant difference was found even in the endometriosis (p=0.5) or the idiopathic infertility group (p=0.9) when compared to controls. Regarding the recessive inheritance model no statistically significant difference was found, with p=0.6 and p=1.0, respectively, for the endometriosis and idiopathic infertility groups.
the results suggest that the TP53 codon 72 polymorphism does not confer genetic susceptibility to endometriosis and/or infertility in the Brazilian population, not even the severe form of the disease.
评估子宫内膜异位症不孕女性、特发性不孕女性、对照组中TP53密码子72多态性的频率及其与疾病的关系。
一项病例对照研究，纳入198例子宫内膜异位症不孕女性、70例特发性不孕女性以及169例无子宫内膜异位症的可育女性作为对照。采用实时聚合酶链反应（PCR），利用TaqMan引物系统检测TP53密码子72基因多态性（rs1042522，Arg/C:Pro/G），该系统的引物位于相关区域两侧，探针用不同荧光染料标记，一种用于C等位基因，另一种用于G等位基因。当观察到两种染料时，患者被认为是杂合子CG。若仅存在一种染料，则个体被认为是纯合子CC或GG。采用χ2检验比较各组之间的等位基因和基因型频率。所有p值为双侧，p值<0.05被认为具有统计学意义。
无论疾病处于何阶段，我们发现子宫内膜异位症不孕患者与对照组之间，TP53密码子72多态性基因型CC、CG或GG的分布（p = 0.7）以及等位基因C或G的分布（p = 0.4）均无统计学显著差异（p = 0.4）。关于不孕，特发性不孕女性与对照组之间在基因型或等位基因分布上也未观察到统计学显著差异（分别为p = 1.0和p = 0.9）。考虑显性遗传模式时，与对照组相比，子宫内膜异位症组（p = 0.5）或特发性不孕组（p = 0.9）同样未发现统计学显著差异。对于隐性遗传模式，子宫内膜异位症组和特发性不孕组的p值分别为0.6和l.0，均未发现统计学显著差异。
结果表明，在巴西人群中，TP53密码子72多态性不会赋予子宫内膜异位症和/或不孕的遗传易感性，即使是该疾病的严重形式也不会。
