@misc{10481/76371,
year = {2022},
month = {6},
url = {http://hdl.handle.net/10481/76371},
abstract = {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.},
organization = {Plan Andaluz de Investigacion, Desarrollo e Innovacion (PAIDI 2020)	PY20_00212	
P20_00583},
organization = {Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation	SAF2016-78722-R	
PID2020-120157RB-I00},
organization = {Proyectos I + D + i del Programa Operativo FEDER 2020	B-CTS-584-UGR20	
B-CTS-260-UGR20},
organization = {Spanish Government	RYC-2014-16458},
organization = {Spanish Ministry of Economy and Competitiveness through the "Juan de la Cierva Incorporacion" program (MCIN/AEI)	IJC2018038026-I},
organization = {European Commission},
organization = {MCIN/AEI},
organization = {FSE "El FSE invierte en tu futuro"	FPU20/02926	
BES-2017-081222},
organization = {Portuguese Foundation for Science and Technology (FCT) - European Social Funds (COMPETE-FEDER)		
Portuguese Foundation for Science and Technology	IF/01262/2014},
organization = {FCT from the Portuguese State Budget of the Ministry for Science, Technology and High Education	SFRH/BPD/120777/2016},
organization = {European Social Fund through the Programa Operacional do Capital Humano},
organization = {Portuguese Foundation for Science and Technology
European Commission	UID/BIM/00009/2013	
UIDB/UIDP/00009/2020},
organization = {Instituto de Salud Carlos III (FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe)	DTS18/00101},
organization = {Generalitat de Catalunya	2017SGR191},
organization = {SNS-Dpt. Salut Generalitat de Catalunya	CES09/020	
MCIN/AEI	BES-2017-081222	
PEstC/SAU/LA0003/2013	
POCI-01-0145-FEDER-007274},
publisher = {MDPI},
keywords = {Severe spermatogenic failure},
keywords = {Male infertility},
keywords = {PIN1},
keywords = {Single nucleotide polymorphism},
keywords = {Sertoli cell-only syndrome},
title = {Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome},
doi = {10.3390/jpm12060932},
author = {Cerván Martín, Miriam and Bossini Castillo, Lara María and Guzmán Jiménez, Andrea and Castilla Alcalá, José Antonio and Gonzalvo, M. Carmen and Clavero, Ana and Vicente Prados, Francisco Javier and González Muñoz, Sara and Rodríguez Martín, Inmaculada and Burgos Poyatos, Miguel and Jiménez Medina, Rafael and Carmona López, Francisco David and Palomino Morales, Rogelio Jesús and IVIRMA Group and Lisbon Clinical Group},
}