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The Genetics of Male Infertility pp 275–289Cite as

Polymorphisms and Male Infertility

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Abstract

The analysis of polymorphisms in genes involved in spermatogenesis represents one of the most exciting areas of research in the genetics of male infertility. These studies are not only important for identifying genetic risk factors for male infertility, but they may also represent an important starting point for searching for genes involved in spermatogenesis through linkage analysis. Despite many efforts, we often face frustrating situations in which initial promising data are not confirmed in later studies. Discrepancies between association studies are rather frequent and can be related to different factors, such as inadequate sample size, the pathogenetic heterogeneity of infertility, inappropriate control subjects, positive publication bias, and ethnic and geographic differences.

It is likely that some polymorphisms only lead to testicular dysfunction when associated with a specific genetic background or with environmental factors. The role of genetic background seems to be especially relevant for one of the most promising genetic risk factors, the gr-gr deletions of the Y chromosome. Certain gene variants may cause specific phenotypes and consequently only the analysis of a specific subgroup of patients is able to identify their clinical significance. To obtain reliable and clinically useful data, much more attention should be focused on the correct study design, which is still the major weakness of association studies.

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  1. Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy

    Csilla Krausz MD, PhD

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  1. Csilla Krausz MD, PhD
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  1. Departments of Surgery (Urology), Obstetrics and Gynecology, and Physiology, University of Utah School of Medicine, Salt Lake City, UT

    Douglas T. Carrell PhD

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Krausz, C. (2007). Polymorphisms and Male Infertility. In: Carrell, D.T. (eds) The Genetics of Male Infertility. Humana Press. https://doi.org/10.1007/978-1-59745-176-5_18

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