Single‐Nucleotide Polymorphisms in the <i>SEPTIN12</i> Gene May Be a Genetic Risk Factor for Japanese Patients With Sertoli Cell–Only Syndrome
説明
<jats:p><jats:bold>ABSTRACT: </jats:bold> Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis, including human <jats:italic>SEPTIN12</jats:italic>, were identified by expression microarray analysis of human testicular tissue. Septin12 is a member of the septin family of conserved cytoskeletal GTPases that form heteropolymeric filamentous structures in interphase cells. It is expressed specifically in the testis. Therefore, we hypothesized that mutation or polymorphisms of <jats:italic>SEPTIN12</jats:italic> participate in male infertility, especially Sertoli cell–only syndrome (SCOS). To investigate whether <jats:italic>SEPTIN12</jats:italic> gene defects are associated with azoospermia caused by SCOS, mutational analysis was performed in 100 Japanese patients by direct sequencing of coding regions. Statistical analysis was performed in patients with SCOS and in 140 healthy control men. No mutations were found in <jats:italic>SEPTIN12</jats:italic>; however, 8 coding single‐nucleotide polymorphisms (SNP1–SNP8) could be detected in the patients with SCOS. The genotype and allele frequencies in SNP3, SNP4, and SNP6 were notably higher in the SCOS group than in the control group (<jats:italic>P</jats:italic> < .001). These results suggest that <jats:italic>SEPTIN12</jats:italic> might play a critical role in human spermatogenesis.</jats:p>
収録刊行物
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- Journal of Andrology
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Journal of Andrology 33 (3), 483-487, 2012-05-06
Wiley