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

Toshinobu Miyamoto, Akira Tsujimura, Yasushi Miyagawa, Eitetsu Koh, Mikio Namiki, Michiharu Horikawa, Yasuaki Saijo, Kazuo Sengoku

Journal of assisted reproduction and genetics 2012 Jan

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To investigate the association between SEPTIN12 gene variants and the risk of azoospermia caused by meiotic arrest. Mutational analysis of the SEPTIN12 gene was performed using DNA from 30 Japanese patients with azoospermia by meiotic arrest and 140 fertile male controls. 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). The c.204G>C (Gln38His) variant in the SEPTIN12 gene was associated with increased susceptibility to azoospermia caused by meiotic arrest.

Citation

Toshinobu Miyamoto, Akira Tsujimura, Yasushi Miyagawa, Eitetsu Koh, Mikio Namiki, Michiharu Horikawa, Yasuaki Saijo, Kazuo Sengoku. Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men. Journal of assisted reproduction and genetics. 2012 Jan;29(1):47-51