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Approved research

Association of male infertility genotypes on mortality, cancer, and cardiovascular disease

Principal Investigator: Dr Michael Eisenberg
Approved Research ID: 53354
Approval date: October 2nd 2019

Lay summary

Infertile men have been shown to be sicker than fertile men. They have higher risk of early death and a variety of severe diseases. There are many forms of infertility and some have been associated with certain genes and mutations. It is, however, unknown whether the infertility-related genes also lead to these increased risks of disease, or if infertility is related to health through other mechanisms (e.g. lifestyle, diet, etc.). Therefore, the aim of this study is to investigate the risk of mortality and the development of comorbidities for men possessing DNA signatures consistent with male infertility compared to those without those genotypes within the UK Biobank population. By doing so, we will be able to deduce whether some genotypes predispose to male infertility and future disease and how large of contribution towards higher risk they incur. This information can be useful as a first step towards understanding why these men have higher disease risk and potentially allow better patient counseling. The methodology that we propose will start by identifying which DNA signatures are associated with male infertility. We will then link these DNA signatures to the UK biobank data to determine the association with later health problems. The total project duration is estimated to take 24 months. This includes 6-9 months of analysis, 3-5 months of article writing, and 3-10 months of article review. We consider this project to potentially have a large positive public health impact. Men with infertility constitute a large proportion of all men and this group has historically received little attention even with the large health risks they face. Other studies, mostly epidemiological studies, have already established these high risks of disease for infertile men, ranging from higher risk of cancer to earlier death. The proposed study will focus on understanding the mechanisms involved and especially the contribution of genetics toward these risks. This has not been studied thus far, and therefore could substantially improve the understanding of these high risks. If a genetic link is established, this will allow better patient screening and counseling as infertile men present for care.