Potential biomarkers of nonobstructive azoospermia identified in microarray gene expression analysis

The potential biomarkers of azoospermia and molecular indicators that could determine particular stages of impaired spermatogenesis can be identified with GeneChip Human Gene 1.0 ST arrays.

Agnieszka Malcher, M.S., Natalia Rozwadowska, Ph.D., Tomasz Stokowy, M.S., Tomasz Kolanowski, M.S., Piotr Jedrzejczak, M.D., Wojmir Zietkowiak, Ph.D., Maciej Kurpisz, M.D.

Volume 100, Issue 6, Pages 1686-1694.e7, December 2013


To identify potential biomarkers of azoospermia to determine a particular stage of spermatogenetic differentiation.

GeneChip Human Gene 1.0 ST microarray with validation at mRNA and protein levels.

Basic research laboratory.

Men with various types of nonobstructive azoospermia (n = 18) and with normal spermatogenesis (n = 4).

Obtaining 31 testicular biopsy samples.

Main Outcome Measure(s):
Gene expression analysis using the Affymetrix Human Gene 1.0 ST microarrays on 14 selected genes according to the highest fold change, verified with quantitative polymerase chain reaction and on independent set of microarray samples. Western blot and immunohistochemistry were additionally performed.

The comparative analysis of gene expression profiles in the infertile and control groups resulted in the selection of 4,946 differentially expressed genes. AKAP4, UBQLN3, CAPN11, GGN, SPACA4, SPATA3, and FAM71F1 were the most significantly down-regulated genes in infertile patients. Global analysis also led to identification of up-regulated genes—WBSCR28, ADCY10, TMEM225, SPATS1, FSCN3, GTSF1L, and GSG1—in men with late maturation arrest. Moreover, the results from quantitative polymerase chain reaction and Western blot largely confirmed the microarray data.

The set of selected genes can be used to create a molecular diagnostic tool to determine the degree of spermatogenic impairment for men with idiopathic nonobstructive azoospermia.

  • Sandra Garcia-Herrero

    Authors have done a very comprehensive and thorough piece of work. In this
    interesting paper, as authors themselves ensure, microarray analysis corroborated data previously described in other papers, highlighting a group of genes as potential non obstructive azoospermia (NOA) biomarkers, previously defined by other authors as well
    as some other genes to classify, more accurately than histopathology method the type of
    NOA. In the last years, molecular signature / transcriptomic profiling have been emerging as a legitimate alternative to the traditional histological techniques for different clinical indications. For example, our group assess endometrial receptivity status by a molecular tool called ERA (Endometrial Receptivity Array) analysis, that has been proven to be far more accurate than histopathology method (Díaz-Gimeno, 2013).

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