Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil

Abstract

Although the birth of twins has always attracted attention, there are no known genetic or environmental factors that can determine the birth of monozygotic (MZ) twins. And even for dizygotic (DZ) twins, genetic influences are not completely understood. A previous study from our group has shown that the C allele of polymorphism rs1042522 in the TP53 gene was more frequent in the mothers of twins than in the mothers of singletons in a small village in South Brazil. In order to clarify whether this was an isolated factor, we performed a population-based, observational case-control study. Samples were selected from a state-funded program of paternity investigation. Samples were considered cases when two of the children had the same date of birth, whereas controls were those samples in which at least two children were born in different dates. The first subsequent sample fulfilling control criteria was included after each case. From 2007 to 2013, 32,661 records were searched and 283 (0.9%) twins were found (119 MZ and 164 DZ). Genotypic and allele frequencies were not different between mothers of twins or mothers of singletons. However, mothers of MZ twins showed a higher frequency of GG genotype and lower frequency of the C allele when compared to mothers of DZ twins. Also, the proportion of MZ twins (42%) was higher than usually reported (30%). Finally, the proportion of twins found in this study seems to be more realistic, as this sample was allegedly not from users of assisted reproduction techniques.

Population medical genetics: translating science to the community

“…From these studies, we observed that the prevalence of the P72 allele of the TP53 gene was higher in mothers of twins compared to mothers of singletons, suggesting a possible effect of this gene in the biology of twinning (Tagliani-Ribeiro et al , 2012). This was the first study to associate the p53 pathway with twinning, and this finding was replicated in further studies in other populations (Huang et al , 2015; Mardini et al , 2017).…”

Decifrando o mistério dos gêmeos : vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul

“…Além de apoiar a hipótese previamente formulada para o mistério em CG, este foi o primeiro estudo a associar a via p53 com a gemelaridade em humanos e este achado tem sido replicado por outros trabalhos envolvendo outras populações 40,41 . Recentemente, continuamos testando algumas outras variantes genéticas relacionadas à reprodução humana, mas os resultados não parecem indicar alguma influência dos candidatos investigados com o fenômeno 42, 43 .…”

Conectividade, Rede De Saúde E Cidadania: Projeto “Café, Palavras E Suspiros” – Uff

“…Dois trabalhos associaram a geminação com a proteína p53, nos quais, os autores pesquisaram a maior prevalência de nascimento de gêmeos em uma cidade do Rio Grande do Sul -Cândido Godoi, esse aumento de gemelares sugeriu um efeito fundador (RIBEIRO, 2012;MARDINI, 2017).…”