The Human Reproduction and Hereditary and Complex Diseases research group of the Biosanitary Research Institute ibs.GRANADA has shown that certain genetic variants present in the Asian population are associated with azoospermia in the European population.

Causes of male infertility include, but are not limited to, unhealthy lifestyles, blockages of the ducts that allow sperm to escape, infections by viruses or bacteria in childhood, or genetic causes. Not only the origin of male sterility is very varied, but the alterations that it produces in semen are also very varied. Thus, the shape, vitality or number of sperm can be affected. Of all these alterations, azoospermia, which involves the total absence of sperm in the ejaculate, is the most serious.

The study carried out from the ibs.GRANADA has consisted of the genetic analysis of cases and controls using real-time PCR techniques for the detection of genetic variants of single nucleotide polymorphisms (SNPs), that is, the identification of the most common variants. common found in the human genome.

A total of 674 infertile and 1058 fertile men have participated in this research, all of them of peninsular origin (including both Spain and Portugal). This group of infertile men are cases with severe alterations in the number of sperm, including patients with severe oligozoospermia (<1 million sperm per ml) and patients with azoospermia (total absence of sperm in the ejaculate), verifying in both cases that the origin not be obstructive.

This large participation has been possible thanks to the fact that this team of scientists has the largest cohort in Europe of infertile patients due to severe spermatogenic failure, that is, of patients with alterations in spermatogenesis.

The prevalence of infertility in Spain is 15% in couples of reproductive age. According to the Ministry of Health, assisted reproduction treatments have increased by 28% in Spain in the last 5 years, which is a clear sign that sterility is becoming a growing problem in today's developed societies.

Over the past few years, numerous research groups have tried to elucidate the genetic causes of severe spermatogenic failure. Thanks to the efforts of the scientific community, it has been possible to identify a considerable number of genetic variants that are directly involved with this pathology. However, there are a large number of patients, around 80%, who still do not know the origin of their sterility. This could be due to the fact that, as occurs in many types of cancer or in autoimmune diseases, severe spermatogenic failure of unknown origin develops as a consequence of the accumulation in the genome of a multitude of genetic variants that, together with the influence of the environment, confer a greater risk of developing the pathology.

In this novel Granada study, they have succeeded in verifying that the genetic variants identified in the Asian population, which are associated with severe spermatogenic failure in the European population, are the CDC42BPA, PEX10 and ABLIM1 genes.

These results obtained from this group belonging to the area of advanced therapies and biomedical technologies of the ibs.GRANADA, have shown that there are genetic variants that affect human fertility and that they are common among different populations, which is a great step to advance in the knowledge of the genetic origin of male sterility. These types of studies are the basis so that, in the near future, genetic markers will be included among the diagnostic and prognostic tools for these patients with an unknown origin of their infertility, improving the precision of the treatments available for couples who require the use of assisted reproductive techniques.

About the research group

The research group on Human Reproduction and Hereditary and Complex Diseases of the ibs.GRANADA, led by Dr. José Antonio Castilla Alcalá, is a multidisciplinary group with a clear translational intention. His field of study is the attention to the reproductive desires of sterile couples, whether at the molecular, clinical or psychological level. His research focuses on increasing the safety and quality of these techniques, addressing clearly molecular aspects such as uterine receptivity and spermatogenesis, without forgetting aspects related to the linguistic and numerical compression capacity of patients. In addition, it works on obstetric aspects related to premature birth such as its prevention and treatment.

More information about the group at https://www.ibsgranada.es/grupos-de-investigacion/tec14-reproduccion-humana-y-enfermedades-hereditarias-y-complejas/

Reference photo:

Cerván-Martín M, Bossini-Castillo L, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S; IVIRMA Group, Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Vicente FJ, Guzmán-Jiménez A, 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, Carmona FD, Palomino-Morales RJ. Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort. Andrology. 2021 Jul; 9 (4): 1151-1165. doi: 10.1111 / andr.13009. Epub 2021 Apr 20

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