title: The TP73 gene polymorphism (rs4648551, A>G) is associated with diminished ovarian reserve.
abstract: It's known that the members of the TP53 family are involved in the regulation of female reproduction. Studies in mice showed that the TP73 gene (member of this family) plays a role in the size of follicular pool, ovulation rate and maintenance of genomic stability. In the present study we analyzed data from 605 patients with ≤ 37 years attending their first intracytoplasmic sperm injection (ICSI). The association between the TP73 polymorphism (rs4648551, A>G) and the following parameters related to ovarian reserve, like age, antral follicular count (AFC), anti-Mullerian hormone levels (AMH) and ovarian response prediction index (ORPI) was evaluated. Our results showed an association of the AA genotype with diminished ovarian reserve (AMH <1, AFC ≤9). Women presenting the AA genotype had a 2.0-fold increased risk for having AMH <1 and AFC ≤9 (OR 2.0, 95% CI 1.23-3.31, P = 0.005). Patients presenting AA genotype had the lowest levels of AMH (P = 0.02), the lowest number of antral follicles (P = 0.01) and the lowest ORPI (P = 0.007). Analyzing the alleles, we can see an enrichment of the A allele in the group of diminished ovarian reserve (OR 1.4, 95%CI 1.02-1.83, P = 0.04). To the best of our knowledge, the present study is the first to analyze this polymorphism in humans for assessing the numbers of ovarian follicles and AMH levels and, therefore, the ovarian reserve. Our findings can contribute to the use of this polymorphism as a potential marker of diminished ovarian reserve.
authors: Paulista Center for Diagnosis, Research and Training, Ribeirão Preto, São Paulo, Brazil.
authors: Laura Diniz
authors: LD
authors: Vagnini
authors: Paulista Center for Diagnosis, Research and Training, Ribeirão Preto, São Paulo, Brazil.
authors: Adriana
authors: A
authors: Renzi
authors: Paulista Center for Diagnosis, Research and Training, Ribeirão Preto, São Paulo, Brazil.
authors: Gabriela Ravanelli
authors: GR
authors: Oliveira-Pelegrin
authors: Paulista Center for Diagnosis, Research and Training, Ribeirão Preto, São Paulo, Brazil.
authors: Maria do Carmo Tomitão
authors: Mdo C
authors: Canas
authors: Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.
authors: Claudia Guilhermino
authors: CG
authors: Petersen
authors: Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.
authors: Ana Lucia
authors: AL
authors: Mauri
authors: Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.
authors: João Batista Alcantara
authors: JB
authors: Oliveira
authors: Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.
authors: Ricardo Luiz Razera
authors: RL
authors: Baruffi
authors: Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.
authors: Mario
authors: M
authors: Cavagna
authors: Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.
authors: José Gonçalves
authors: JG
authors: Franco Junior
mesh_terms: D000328:Adult; D000483:Alleles; D054304:Anti-Mullerian Hormone / Q000097:blood; D001938:Brazil; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D006080:Ovarian Follicle; D065851:Ovarian Reserve / Q000235:genetics*; D010053:Ovary; D010062:Ovulation Induction; D020641:Polymorphism, Single Nucleotide; D000072160:Tumor Protein p73; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C000606460:TP73 protein, human; C000606368:Trp73 protein, mouse; D000072160:Tumor Protein p73; D025521:Tumor Suppressor Proteins; D054304:Anti-Mullerian Hormone