Towards a Comprehensive Catalog of Human Genes Associated with Main Forms of Pathozoospermia and its Functional Annotation

Poster (download)

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Elena V. Ignatieva¹, Alexander V. Osadchuk², Maxim A Kleshev³, Ludmila V. Osadchuk^4
1The Federal Research Center Institute of Cytology and Genetics, SB RAS, eignat@bionet.nsc.ru
²The Federal Research Center Institute of Cytology and Genetics, SB RAS, osadchuk@bionet.nsc.ru
³The Federal Research Center Institute of Cytology and Genetics, SB RAS, max82cll@bionet.nsc.ru
⁴The Federal Research Center Institute of Cytology and Genetics, SB RAS, losadch@bionet.nsc.ru

The genetic causes of the global decline in male fertility is among the hot spots of scientific research in reproductive genetics. The most common way to evaluate male fertility in clinical trials is to determine the quality of the ejaculate. A pathological condition characterized by lower quality indicators of the ejaculate compared to the norm and leading to impaired fertility is called pathozoospermia. Pathozoospermia is a syndrome that occurs in many diseases and can be caused by many factors, including genetic ones. To systematize information about genes associated with main forms of pathozoospermia, we created a catalog of such genes and analyzed their functional characteristics. On the basis of a manual analysis of scientific publications we collected data on 70 genes harboring more than one hundred allelic variants associated with pathozoospermia. Gene ontology enrichment analysis revealed that genes were significantly associated with spermatogenesis and male gamete generation. In addition it was found that genes from the catalog were associated with more than seventy human diseases that were both reproductive system pathologies and others, such as Parkinson\’s and Alzheimer\’s diseases as well as various cancer types.