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Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.

ABSTRACT: PURPOSE:To investigate the association between SEPTIN12 gene variants and the risk of azoospermia caused by meiotic arrest. METHODS:Mutational analysis of the SEPTIN12 gene was performed using DNA from 30 Japanese patients with azoospermia by meiotic arrest and 140 fertile male controls. RESULTS:The frequencies of the c.204G>C (Gln38His) allele and the CC genotype were significantly higher in patients than in fertile controls (p?C (Gln38His) variant in the SEPTIN12 gene was associated with increased susceptibility to azoospermia caused by meiotic arrest.

SUBMITTER: Miyamoto T

PROVIDER: S-EPMC3252415 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.

Miyamoto Toshinobu T Tsujimura Akira A Miyagawa Yasushi Y Koh Eitetsu E Namiki Mikio M Horikawa Michiharu M Saijo Yasuaki Y Sengoku Kazuo K

Journal of assisted reproduction and genetics 20111125 1

<h4>Purpose</h4>To investigate the association between SEPTIN12 gene variants and the risk of azoospermia caused by meiotic arrest.<h4>Methods</h4>Mutational analysis of the SEPTIN12 gene was performed using DNA from 30 Japanese patients with azoospermia by meiotic arrest and 140 fertile male controls.<h4>Results</h4>The frequencies of the c.204G>C (Gln38His) allele and the CC genotype were significantly higher in patients than in fertile controls (p < 0.05).<h4>Conclusion</h4>The c.204G>C (Gln3 ...[more]

PMID: 22116646

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