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

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

Author Camargo-Kosugi, Cintia Meirelles de Autor UNIFESP Google Scholar
D'Amora, Paulo Autor UNIFESP Google Scholar
Kleine, Joao Paulo Ferreira de Oliveira Autor UNIFESP Google Scholar
Carvalho, Cristina Valletta de Autor UNIFESP Google Scholar
Sato, Hélio Autor UNIFESP Google Scholar
Schor, Eduardo Autor UNIFESP Google Scholar
Silva, Ismael Dale Cotrim Guerreiro da Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
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.
Keywords Cell cycle
Endometriosis
Gene polymorphism
p53
TP53
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number FAPESP: 09/53000-2
Date 2014-01-01
Published in Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 13, n. 3, p. 6503-6511, 2014.
ISSN 1676-5680 (Sherpa/Romeo, impact factor)
Publisher Funpec-editora
Extent 6503-6511
Origin http://dx.doi.org/10.4238/2014.August.26.1
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000343049600015
URI http://repositorio.unifesp.br/handle/11600/37190

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