Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

• Tipo: Artigo em Revista Científica Internacional
• Data: 2022

Autores

Cervan Martin, M (Autor) Outra; Bossini Castillo, L (Autor) Outra; Guzman Jimenez, A (Autor) Outra; Rivera Egea, R (Autor) Outra; Garrido, N (Autor) Outra; Lujan, S (Autor) Outra; Romeu, G (Autor) Outra; Santos Ribeiro, S (Autor) Outra; Castilla, JA (Autor) Outra; Gonzalvo, MC (Autor) Outra; Clavero, A (Autor) Outra; Vicente, FJ (Autor) Outra; Maldonado, V (Autor) Outra; Gonzalez Munoz, S (Autor) Outra; Rodriguez Martin, I (Autor) Outra; Burgos, M (Autor) Outra; Jimenez, R (Autor) Outra; Pinto, MG (Autor) Outra; Pereira, I (Autor) Outra; Nunes, J (Autor) Outra; Sanchez Curbelo, J (Autor) Outra; Lopez Rodrigo, O (Autor) Outra; Pereira Caetano, I (Autor) Outra; Marques, PI (Autor) Outra; carvalho, f (Autor) FMUP; barros, a (Autor) FMUP; Bassas, L (Autor) Outra; Seixas, S (Autor) Outra; Goncalves, J (Autor) Outra; Larriba, S (Autor) Outra; Alexandra M Lopes (Autor) Outra; Carmona, FD (Autor) Outra; Palomino Morales, RJ (Autor) Outra

Revista

A Revista está pendente de validação pelos Serviços Administrativos.

Título: JOURNAL OF PERSONALIZED MEDICINE

Vol. 12

Página Final: 932

ISSN: 2075-4426

Editora: MDPI

Indexação

ISI Web of Knowledge - 0 Citações

Scopus - 0 Citações

Outras Informações

ID Authenticus: P-00W-V4S

DOI: 10.3390/jpm12060932

Abstract (EN): We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (OR(add)rs2287839 = 1.85 (1.17-2.93), OR(add)rs2233678 = 1.62 (1.11-2.36), OR(add)rs62105751 = 1.43 (1.06-1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 14