Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

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)...

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Autores: Cervan-Martin, M, Suazo-Sanchez, MI, Rivera-Egea, R, Garrido, N, Lujan, S, Romeu, G, Santos-Ribeiro, S, Castilla, JA, Gonzalvo, MC, Clavero, A, Vicente, FJ, Maldonado, V, Burgos, M, Barrionuevo, FJ, Jimenez, R, Sanchez-Curbelo, J, Lopez-Rodrigo, O, Peraza, MF, Pereira-Caetano, I, Marques, PI, Carvalho, F, Barros, A, Bassas, L, Seixas, S, Goncalves, J, Larriba, S, Lopes, AM, Palomino-Morales, RJ, Carmona, FD
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p1760
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1760
Access Level:acceso abierto
Palabra clave:SOHLH2
spermatogenesis
nonobstructive azoospermia
oligospermia
infertility
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spelling Intronic variation of the SOHLH2 gene confers risk to male reproductive impairmentCervan-Martin, MSuazo-Sanchez, MIRivera-Egea, RGarrido, NLujan, SRomeu, GSantos-Ribeiro, SCastilla, JAGonzalvo, MCClavero, AVicente, FJMaldonado, VBurgos, MBarrionuevo, FJJimenez, RSanchez-Curbelo, JLopez-Rodrigo, OPeraza, MFPereira-Caetano, IMarques, PICarvalho, FBarros, ABassas, LSeixas, SGoncalves, JLarriba, SLopes, AMPalomino-Morales, RJCarmona, FDSOHLH2spermatogenesisnonobstructive azoospermiaoligospermiainfertilityObjective: 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. ((C) 2020 by American Society for Reproductive Medicine.)ELSEVIER SCIENCE INC2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1760FERTILITY AND STERILITYISSN: 00150282ISSNe: 15565653reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p17602026-06-14T12:41:47Z
dc.title.none.fl_str_mv Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
title Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
spellingShingle Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
Cervan-Martin, M
SOHLH2
spermatogenesis
nonobstructive azoospermia
oligospermia
infertility
title_short Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
title_full Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
title_fullStr Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
title_full_unstemmed Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
title_sort Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
dc.creator.none.fl_str_mv Cervan-Martin, M
Suazo-Sanchez, MI
Rivera-Egea, R
Garrido, N
Lujan, S
Romeu, G
Santos-Ribeiro, S
Castilla, JA
Gonzalvo, MC
Clavero, A
Vicente, FJ
Maldonado, V
Burgos, M
Barrionuevo, FJ
Jimenez, R
Sanchez-Curbelo, J
Lopez-Rodrigo, O
Peraza, MF
Pereira-Caetano, I
Marques, PI
Carvalho, F
Barros, A
Bassas, L
Seixas, S
Goncalves, J
Larriba, S
Lopes, AM
Palomino-Morales, RJ
Carmona, FD
author Cervan-Martin, M
author_facet Cervan-Martin, M
Suazo-Sanchez, MI
Rivera-Egea, R
Garrido, N
Lujan, S
Romeu, G
Santos-Ribeiro, S
Castilla, JA
Gonzalvo, MC
Clavero, A
Vicente, FJ
Maldonado, V
Burgos, M
Barrionuevo, FJ
Jimenez, R
Sanchez-Curbelo, J
Lopez-Rodrigo, O
Peraza, MF
Pereira-Caetano, I
Marques, PI
Carvalho, F
Barros, A
Bassas, L
Seixas, S
Goncalves, J
Larriba, S
Lopes, AM
Palomino-Morales, RJ
Carmona, FD
author_role author
author2 Suazo-Sanchez, MI
Rivera-Egea, R
Garrido, N
Lujan, S
Romeu, G
Santos-Ribeiro, S
Castilla, JA
Gonzalvo, MC
Clavero, A
Vicente, FJ
Maldonado, V
Burgos, M
Barrionuevo, FJ
Jimenez, R
Sanchez-Curbelo, J
Lopez-Rodrigo, O
Peraza, MF
Pereira-Caetano, I
Marques, PI
Carvalho, F
Barros, A
Bassas, L
Seixas, S
Goncalves, J
Larriba, S
Lopes, AM
Palomino-Morales, RJ
Carmona, FD
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv SOHLH2
spermatogenesis
nonobstructive azoospermia
oligospermia
infertility
topic SOHLH2
spermatogenesis
nonobstructive azoospermia
oligospermia
infertility
description 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. ((C) 2020 by American Society for Reproductive Medicine.)
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1760
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1760
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv ELSEVIER SCIENCE INC
publisher.none.fl_str_mv ELSEVIER SCIENCE INC
dc.source.none.fl_str_mv FERTILITY AND STERILITY
ISSN: 00150282
ISSNe: 15565653
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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