Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases

Juan J Tarín, Juan J. Tarı́n, Miguel A García-Pérez, Miguel Ángel García‐Pérez, Toshio Hamatani, Antonio Cano
Reproductive biology and endocrinology : RB&E · 2015 · vol. 13(1) , pp. 31 · doi:10.1186/s12958-015-0029-9 · PMID:25880215 · W2069136536
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This review found that different infertility etiologies share genetic pathways and are clinically linked with specific later-life diseases, supporting the idea of infertility as part of broader meta-diseases.

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Abstract

The present review aims to ascertain whether different infertility etiologies share particular genes and/or molecular pathways with other pathologies and are associated with distinct and particular risks of later-life morbidity and mortality. In order to reach this aim, we use two different sources of information: (1) a public web server named DiseaseConnect ( http://disease-connect.org ) focused on the analysis of common genes and molecular mechanisms shared by diseases by integrating comprehensive omics and literature data; and (2) a literature search directed to find clinical comorbid relationships of infertility etiologies with only those diseases appearing after infertility is manifested. This literature search is performed because DiseaseConnect web server does not discriminate between pathologies emerging before, concomitantly or after infertility is manifested. Data show that different infertility etiologies not only share particular genes and/or molecular pathways with other pathologies but they have distinct clinical relationships with other diseases appearing after infertility is manifested. In particular, (1) testicular and high-grade prostate cancer in male infertility; (2) non-fatal stroke and endometrial cancer, and likely non-fatal coronary heart disease and ovarian cancer in polycystic ovary syndrome; (3) osteoporosis, psychosexual dysfunction, mood disorders and dementia in premature ovarian failure; (4) breast and ovarian cancer in carriers of BRCA1/2 mutations in diminished ovarian reserve; (5) clear cell and endometrioid histologic subtypes of invasive ovarian cancer, and likely low-grade serous invasive ovarian cancer, melanoma and non-Hodgkin lymphoma in endometriosis; and (6) endometrial and ovarian cancer in idiopathic infertility. The present data endorse the principle that the occurrence of a disease (in our case infertility) is non-random in the population and suggest that different infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases. This finding opens new insights for clinicians and reproductive biologists to treat infertility problems using a phenomic approach instead of considering infertility as an isolated and exclusive disease of the reproductive system/hypothalamic-pituitary-gonadal axis. In agreement with a previous validation analysis of the utility of DiseaseConnect web server, the present study does not show a univocal correspondence between common gene expression and clinical comorbid relationship. Further work is needed to untangle the potential genetic, epigenetic and phenotypic relationships that may be present among different infertility etiologies, morbid conditions and physical/cognitive traits.

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Condition tags

endometriosisinfertility

MeSH descriptors

Infertility Adult Breast Neoplasms Breast Neoplasms Breast Neoplasms Cardiovascular Diseases Cardiovascular Diseases Cardiovascular Diseases Comorbidity Databases, Genetic Female Genital Diseases, Female Genital Diseases, Female Genital Diseases, Female Genome-Wide Association Study Humans Infertility Infertility Male Mental Disorders

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