Portal de investigación
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Cerván-Martín M
- Bossini-Castillo L
- Santos-Ribeiro S
- Ivirma Group
- Lisbon Clinical Group
- Castilla JA
- Gonzalvo MC
- Clavero A
- Vicente FJ
- Guzmán-Jiménez A
- Costa C
- Llinares-Burguet I
- Khantham C
- Burgos M
- Barrionuevo FJ
- Jiménez R
- Sánchez-Curbelo J
- López-Rodrigo O
- Peraza MF
- Pereira-Caetano I
- Marques PI
- Carvalho F
- Barros A
- Bassas L
- Seixas S
- Gonçalves J
- Larriba S
- Lopes AM
- Palomino-Morales RJ
- Carmona FD
Grupos
Abstract
Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8 -rs7174015 was observed under the recessive model between the NOA group and both the control group ( p = 0.0226, OR = 1.33) and the SO group ( p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1 -rs12870438 and PSAT1 -rs7867029 with SO and between TUSC1 -rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.
Datos de la publicación
- ISSN/ISSNe:
- 2075-4426, 2075-4426
- Tipo:
- Article
- Páginas:
- -
- DOI:
- 10.3390/jpm11010022
- PubMed:
- 33383876
- Factor de Impacto:
- 1,254 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
Journal of Personalized Medicine Multidisciplinary Digital Publishing Institute (MDPI)
Citas Recibidas en Web of Science: 6
Documentos
- No hay documentos
Filiaciones
Keywords
- SNPs, genetic association analysis, impaired spermatogenesis, infertility, non-obstructive azoospermia, severe oligospermia
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Cita
Cerván M,Bossini L,RIVERA R,GARRIDO N,LUJÁN S,ROMEU G,Santos S,Ivirma G,Lisbon G,Castilla JA,Gonzalvo MC,Clavero A,Vicente FJ,Guzmán A,Costa C,Llinares I,Khantham C,Burgos M,Barrionuevo FJ,Jiménez R,Sánchez J,López O,Peraza MF,Pereira I,Marques PI,Carvalho F,Barros A,Bassas L,Seixas S,Gonçalves J,Larriba S,Lopes AM,Palomino RJ,Carmona FD. Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment. J Pers Med. 2020. 11. (1):22. IF:4,945. (1).