Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
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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, Lisbon Clinical Group, IVIRMA Group
Аннотация
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.