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

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Cervan Martin, M (Author) Other; Suazo Sanchez, MI (Author) Other; Rivera Egea, R (Author) Other; Garrido, N (Author) Other; Lujan, S (Author) Other; Romeu, G (Author) Other; Santos Ribeiro, S (Author) Other; Castilla, JA (Author) Other; Gonzalvo, MC (Author) Other; Clavero, A (Author) Other; Vicente, FJ (Author) Other; Maldonado, V (Author) Other; Burgos, M (Author) Other; Barrionuevo, FJ (Author) Other; Jimenez, R (Author) Other; Sanchez Curbelo, J (Author) Other; Lopez Rodrigo, O (Author) Other; Peraza, MF (Author) Other; Pereira Caetano, I (Author) Other; Marques, PI (Author) Other; carvalho, f (Author) FMUP; Barros, A (Author) FMUP; Bassas, L (Author) Other; Seixas, S (Author) Other; Goncalves, J (Author) Other; Larriba, S (Author) Other; Lopes, AM (Author) Other; Palomino Morales, RJ (Author) Other; Carmona, FD (Author) Other

Journal

Title: Fertility and Sterility

Vol. 114

Pages: 398-406

ISSN: 0015-0282

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 8 Citations

Scopus - 8 Citations

Other information

Authenticus ID: P-00S-G6A

DOI: 10.1016/j.fertnstert.2020.02.115

Abstract (EN): 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.)

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 9