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http://hdl.handle.net/10400.18/7351
Título: | Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment |
Autor: | Cerván-Martín, Miriam Suazo-Sánchez, M. Irene Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Romeu, Gema Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Maldonado, Vicente Burgos, Miguel Barrionuevo, Francisco J. Jiménez, Rafael Sánchez-Curbelo, Josvany López-Rodrigo, Olga Peraza, M. Fernanda Pereira-Caetano, Iris Marques, Patricia I. Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Larriba, Sara Lopes, Alexandra M. Palomino-Morales, Rogelio J. Carmona, F. David Calhaz-Jorge, Carlos Aguiar, Ana Nunes, Joaquim Sousa, Sandra Graça Pinto, Maria Correia, Sónia Pacheco, Alberto González, Cristina Gómez, Susana Amorós, David Aguilar, Jesús Quintana, Fernando |
Palavras-chave: | SOHLH2 Azoospermia Oligozoospermia Male Infertility Spain Portugal. Doenças Genéticas |
Data: | Ago-2020 |
Editora: | Elsevier/ American Society for Reproductive Medicine |
Citação: | Fertil Steril. 2020 Aug;114(2):398-406. doi: 10.1016/j.fertnstert.2020.02.115. Epub 2020 Jul 18. |
Resumo: | Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls from Spain and Portugal. Intervention(s): None. Main outcome measure(s): Genomic DNA extraction from peripheral blood mononuclear cells, genotyping of the SOHLH2 polymorphisms rs1328626 and rs6563386 using the TaqMan allelic discrimination technology, case-control association analyses using logistic regression models, and exploration of functional annotations in publicly available databases. Result(s): Evidence of association was observed for both rs6563386 with SO and rs1328626 with unsuccessful sperm retrieval after testicular sperm extraction (TESE-) in the context of NOA. A dominant effect of the minor alleles was suggested in both associations, either when the subset of patients with the manifestation were compared against the control group (rs6563386/SO: P=.021, odds ratio [OR] = 0.51; rs1328626/TESE-: P=.066, OR = 1.46) or against the group of patients without the manifestation (rs6563386/SO: P=.014, OR = 0.46; rs1328626/TESE-: P=.012, OR = 2.43). The haplotype tests suggested a combined effect of both polymorphisms. In silico analyses evidenced that this effect could be due to alteration of the isoform population. Conclusion(s): Our data suggest that intronic variation of SOHLH2 is associated with spermatogenic failure. The genetic effect is likely caused by different haplotypes of rs6563386 and rs1328626, which may predispose to SO or TESE- depending on the specific allelic combination. |
Peer review: | yes |
URI: | http://hdl.handle.net/10400.18/7351 |
DOI: | 10.1016/j.fertnstert.2020.02.115 |
ISSN: | 0015-0282 |
Versão do Editor: | https://www.fertstert.org/article/S0015-0282(20)30247-8/fulltext |
Aparece nas colecções: | DGH - Artigos em revistas internacionais |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Cervan Martin et al 2020_SOHLH2_NOA.pdf | 359,88 kB | Adobe PDF | Ver/Abrir Acesso Restrito. Solicitar cópia ao autor! |
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