Coordinated transcriptional regulation patterns associated with infertility phenotypes in men

PJ Ellis, RA Furlong, Sarah Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, DK Griffin, NA Affara

Research output: Contribution to journalArticle

27 Citations (Scopus)


INTRODUCTION: Microarray gene-expression profiling is a powerful tool for global analysis of the transcriptional consequences of disease phenotypes. Understanding the genetic correlates of particular pathological states is important for more accurate diagnosis and screening of patients, and thus for suggesting appropriate avenues of treatment. As yet, there has been little research describing gene-expression profiling of infertile and subfertile men, and thus the underlying transcriptional events involved in loss of spermatogenesis remain unclear. Here we present the results of an initial screen of 33 patients with differing spermatogenic phenotypes. METHODS: Oligonucleotide array expression profiling was performed on testis biopsies for 33 patients presenting for testicular sperm extraction. Significantly regulated genes were selected using a mixed model analysis of variance. Principle components analysis and hierarchical clustering were used to interpret the resulting dataset with reference to the patient history, clinical findings and histological composition of the biopsies. RESULTS: Striking patterns of coordinated gene expression were found. The most significant contains multiple germ cell-specific genes and corresponds to the degree of successful spermatogenesis in each patient, whereas a second pattern corresponds to inflammatory activity within the testis. Smaller-scale patterns were also observed, relating to unique features of the individual biopsies.
Original languageEnglish
Pages (from-to)498-508
Number of pages11
JournalJournal of Medical Genetics
VolumeAhead of print
Publication statusPublished - 16 Mar 2007


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