TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

Abstract

ABSTRACT. We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53*11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. The genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/ Lys); the homozygous variant genotype was not identified (P = 0.02). TP53*72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). The genotypic distribution in the endometriosis group was 16.15% homozygous wildtype (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53*248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53*72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis.

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

“…The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) conditions used to amplify the fragments containing the TP53 codons 11 (rs201382018), 72 (rs1042522), and 248 (rs11540652) have been described previously (Camargo-Kosugi et al, 2014), and were adapted in our laboratory.…”

The codon 72 polymorphism of the TP53 gene and endometriosis risk: a meta-analysis

“…First of all, the comprehensive and rigorous research has generated the largest sample size. Three more Asian population studies (Chan, 2013;Huang et al, 2013;Kang et al, 2004) and three more Latin American population studies (Camargo-Kosugi et al, 2014;Frare et al, 2013;Silva, 2012) which were not included in either Jia's or Song's articles have been added in the current meta-analysis. Inclusion of these studies has effectively altered the results of the overall population compared with the previous two meta-analyses.…”

“…Previously, two research groups conducted metaanalyses concerning this theme and presented the same conclusion that TP53 codon 72 polymorphism was associated with the endometriosis risk in Asian populations rather than overall and in Caucasian populations (Jia et al, 2012;Song and Lee, 2014). By including certain new cohorts (Camargo-Kosugi et al, 2014;Chan, 2013;Frare et al, 2013;Huang et al, 2013;Kang et al, 2004;Silva, 2012) and applying different approaches for subgroup analyses, this study conducted an updated meta-analysis in order to further clarify the association between TP53 codon 72 polymorphism and susceptibility of endometriosis.…”

“…In further screening, four case-control studies were excluded under the circumstances that the genotypes of them did not conform to Hardy-Weinberg equilibrium (Gallegos-Arreola et al, 2012;Hur et al, 2002;Lattuada et al, 2004;Nikbakht Dastjerdi et al, 2013). Eventually, a total of 16 case-control studies in 15 articles identified completely met the inclusion criteria, including 2776 cases and 3556 controls (Bianco et al, 2011;Camargo-Kosugi et al, 2014;Chan, 2013;Frare et al, 2013;Gloria-Bottini et al, 2013;Govatati et al, 2012;Hsieh and Lin, 2006;Huang et al, 2013;Kang et al, 2004;Omori et al, 2004;Paskulin et al, 2012;Rotman et al, 2013;Silva, 2012;Vietri et al, 2007;Ying et al, 2011). Among these included studies, there were six case-controls of Asians (Chan, 2013;Hsieh and Lin, 2006;Huang et al, 2013;Kang et al, 2004;Omori et al, 2004;Ying et al, 2011), three of Caucasians (Gloria-Bottini et al, 2013;Govatati et al, 2012;Vietri et al, 2007), five of Latin American (Bianco et al, 2011;Camargo-Kosugi et al, 2014;Frare et al, 2013;Paskulin et al, 2012;Silva, 2012), one mixed-race population from South Asia (Govatati et al, 2012) and one which did not present the ethnicities of patients (Rotman et al, 2013).…”

Genetic polymorphisms in patients with endometriosis: an analytical study in Goiânia (Central West of Brazil)

“…The polymorphic AG genotype of estrogen receptor β (ERβ) is associated with the risk of developing endometriosis (Ko et al, 2006;Camargo-Kosugi et al, 2014). Estrogen plays an important physiological role in the body, mainly related to reproductive functions, regulating the production of gonadotrophin and its release by the pituitary gland; it is also related to mood and social behavior of the individual (Martini et al, 2012).…”