RT Journal Article
T1 Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.
A1 Cervan-Martin, Miriam
A1 Bossini-Castillo, Lara
A1 Guzman-Jimenez, Andrea
A1 Rivera-Egea, Rocio
A1 Garrido, Nicolas
A1 Lujan, Saturnino
A1 Romeu, Gema
A1 Santos-Ribeiro, Samuel
A1 Lisbon Clinical Group, 
A1 Castilla, Jose A
A1 Gonzalvo, M Carmen
A1 Clavero, Ana
A1 Vicente, F Javier
A1 Maldonado, Vicente
A1 Gonzalez-Muñoz, Sara
A1 Rodriguez-Martin, Inmaculada
A1 Burgos, Miguel
A1 Jimenez, Rafael
A1 Pinto, Maria Graça
A1 Pereira, Isabel
A1 Nunes, Joaquim
A1 Sanchez-Curbelo, Josvany
A1 Lopez-Rodrigo, Olga
A1 Pereira-Caetano, Iris
A1 Marques, Patricia Isabel
A1 Carvalho, Filipa
A1 Barros, Alberto
A1 Bassas, Lluis
A1 Seixas, Susana
A1 Gonçalves, João
A1 Larriba, Sara
A1 Lopes, Alexandra M
A1 Carmona, F David
A1 Palomino-Morales, Rogelio J
K1 PIN1
K1 Sertoli cell-only syndrome
K1 male infertility
K1 severe spermatogenic failure
K1 single-nucleotide polymorphism
AB 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 (ORaddrs2287839 = 1.85 (1.17-2.93), ORaddrs2233678 = 1.62 (1.11-2.36), ORaddrs62105751 = 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.
PB MDPI AG
SN 2075-4426
YR 2022
FD 2022-05-30
LK http://hdl.handle.net/10668/21383
UL http://hdl.handle.net/10668/21383
LA en
NO Cerván-Martín M, Bossini-Castillo L, Guzmán-Jimenez A, Rivera-Egea R, Garrido N, Luján S, et al. Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome. J Pers Med. 2022 Jun 4;12(6):932.
DS RISalud
RD Apr 19, 2025